Name: rs60046548
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs60046548

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:43619365-43619394 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₂₁ / del(A)₁₈ / del(A)₁₇ / d…
del(A)₂₁ / del(A)₁₈ / del(A)₁₇ / del(A)₁₆ / del(A)₁₅ / del(A)₁₄ / del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₀
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₂₁=0.0000 (0/7042, ALFA)
del(A)₁₈=0.0000 (0/7042, ALFA)
del(A)₁₇=0.0000 (0/7042, ALFA) (+ 22 more)
del(A)₁₆=0.0000 (0/7042, ALFA)
del(A)₁₅=0.0000 (0/7042, ALFA)
del(A)₁₄=0.0000 (0/7042, ALFA)
del(A)₁₃=0.0000 (0/7042, ALFA)
del(A)₁₂=0.0000 (0/7042, ALFA)
del(A)₁₁=0.0000 (0/7042, ALFA)
del(A)₁₀=0.0000 (0/7042, ALFA)
del(A)₉=0.0000 (0/7042, ALFA)
del(A)₈=0.0000 (0/7042, ALFA)
del(A)₇=0.0000 (0/7042, ALFA)
del(A)₆=0.0000 (0/7042, ALFA)
del(A)₅=0.0000 (0/7042, ALFA)
del(A)₄=0.0000 (0/7042, ALFA)
delAAA=0.0000 (0/7042, ALFA)
delAA=0.0000 (0/7042, ALFA)
delA=0.0000 (0/7042, ALFA)
dupA=0.0000 (0/7042, ALFA)
dupAA=0.0000 (0/7042, ALFA)
dupAAA=0.0000 (0/7042, ALFA)
dup(A)₄=0.0000 (0/7042, ALFA)
dup(A)₅=0.0000 (0/7042, ALFA)
del(A)₁₄=0.1713 (858/5008, 1000G)

Clinical Significance: Reported in ClinVar
Gene : Consequence: POLR1C : Intron Variant
POLH : 3 Prime UTR Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HWEP
Total	Global	7042	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	5472	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	606	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	18	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	588	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	84	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	64	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	20	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	86	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	452	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	68	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	274	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	7042	(A)₃₀=1.0000	del(A)₂₁=0.0000, del(A)₁₈=0.0000, del(A)₁₇=0.0000, del(A)₁₆=0.0000, del(A)₁₅=0.0000, del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	European	Sub	5472	(A)₃₀=1.0000	del(A)₂₁=0.0000, del(A)₁₈=0.0000, del(A)₁₇=0.0000, del(A)₁₆=0.0000, del(A)₁₅=0.0000, del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	African	Sub	606	(A)₃₀=1.000	del(A)₂₁=0.000, del(A)₁₈=0.000, del(A)₁₇=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	452	(A)₃₀=1.000	del(A)₂₁=0.000, del(A)₁₈=0.000, del(A)₁₇=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	274	(A)₃₀=1.000	del(A)₂₁=0.000, del(A)₁₈=0.000, del(A)₁₇=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	86	(A)₃₀=1.00	del(A)₂₁=0.00, del(A)₁₈=0.00, del(A)₁₇=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Asian	Sub	84	(A)₃₀=1.00	del(A)₂₁=0.00, del(A)₁₈=0.00, del(A)₁₇=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	68	(A)₃₀=1.00	del(A)₂₁=0.00, del(A)₁₈=0.00, del(A)₁₇=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
1000Genomes	Global	Study-wide	5008	(A)₃₀=0.8287	del(A)₁₄=0.1713
1000Genomes	African	Sub	1322	(A)₃₀=0.5711	del(A)₁₄=0.4289
1000Genomes	East Asian	Sub	1008	(A)₃₀=0.9147	del(A)₁₄=0.0853
1000Genomes	Europe	Sub	1006	(A)₃₀=0.9254	del(A)₁₄=0.0746
1000Genomes	South Asian	Sub	978	(A)₃₀=0.923	del(A)₁₄=0.077
1000Genomes	American	Sub	694	(A)₃₀=0.921	del(A)₁₄=0.079

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 6	NC_000006.12:g.43619374_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619377_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619378_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619379_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619380_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619381_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619382_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619383_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619384_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619385_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619386_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619387_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619388_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619389_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619390_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619391_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619392_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619393_43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619394del
GRCh38.p14 chr 6	NC_000006.12:g.43619394dup
GRCh38.p14 chr 6	NC_000006.12:g.43619393_43619394dup
GRCh38.p14 chr 6	NC_000006.12:g.43619392_43619394dup
GRCh38.p14 chr 6	NC_000006.12:g.43619391_43619394dup
GRCh38.p14 chr 6	NC_000006.12:g.43619390_43619394dup
GRCh38.p14 chr 6	NC_000006.12:g.43619389_43619394dup
GRCh38.p14 chr 6	NC_000006.12:g.43619388_43619394dup
GRCh38.p14 chr 6	NC_000006.12:g.43619387_43619394dup
GRCh38.p14 chr 6	NC_000006.12:g.43619386_43619394dup
GRCh38.p14 chr 6	NC_000006.12:g.43619385_43619394dup
GRCh37.p13 chr 6	NC_000006.11:g.43587111_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587114_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587115_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587116_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587117_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587118_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587119_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587120_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587121_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587122_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587123_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587124_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587125_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587126_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587127_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587128_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587129_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587130_43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587131del
GRCh37.p13 chr 6	NC_000006.11:g.43587131dup
GRCh37.p13 chr 6	NC_000006.11:g.43587130_43587131dup
GRCh37.p13 chr 6	NC_000006.11:g.43587129_43587131dup
GRCh37.p13 chr 6	NC_000006.11:g.43587128_43587131dup
GRCh37.p13 chr 6	NC_000006.11:g.43587127_43587131dup
GRCh37.p13 chr 6	NC_000006.11:g.43587126_43587131dup
GRCh37.p13 chr 6	NC_000006.11:g.43587125_43587131dup
GRCh37.p13 chr 6	NC_000006.11:g.43587124_43587131dup
GRCh37.p13 chr 6	NC_000006.11:g.43587123_43587131dup
GRCh37.p13 chr 6	NC_000006.11:g.43587122_43587131dup
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48234_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48237_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48238_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48239_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48240_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48241_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48242_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48243_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48244_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48245_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48246_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48247_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48248_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48249_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48250_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48251_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48252_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48253_48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48254del
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48254dup
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48253_48254dup
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48252_48254dup
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48251_48254dup
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48250_48254dup
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48249_48254dup
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48248_48254dup
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48247_48254dup
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48246_48254dup
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48245_48254dup

Gene: POLR1C, RNA polymerase I and III subunit C (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
POLR1C transcript variant 2	NM_001318876.2:c.945+9010… NM_001318876.2:c.945+90103_945+90123del	N/A	Intron Variant
POLR1C transcript variant 3	NM_001363658.2:c.	N/A	Genic Downstream Transcript Variant
POLR1C transcript variant 1	NM_203290.4:c.	N/A	Genic Downstream Transcript Variant
POLR1C transcript variant X1	XM_047419577.1:c.	N/A	Genic Downstream Transcript Variant

Gene: POLH, DNA polymerase eta (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
POLH transcript variant 2	NM_001291969.2:c.4808_4… NM_001291969.2:c.4808_4837=	N/A	3 Prime UTR Variant
POLH transcript variant 3	NM_001291970.2:c.5634_5… NM_001291970.2:c.5634_5663=	N/A	3 Prime UTR Variant
POLH transcript variant 1	NM_006502.3:c.4808_4837=	N/A	3 Prime UTR Variant
POLH transcript variant X1	XM_047418900.1:c.4808_4… XM_047418900.1:c.4808_4837=	N/A	3 Prime UTR Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: dupA (allele ID: 303147 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000371739.5	Xeroderma pigmentosum	Uncertain-Significance

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₃₀=	del(A)₂₁	del(A)₁₈	del(A)₁₇	del(A)₁₆	del(A)₁₅	del(A)₁₄	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀
GRCh38.p14 chr 6	NC_000006.12:g.43619365_43619394=	NC_000006.12:g.43619374_43619394del	NC_000006.12:g.43619377_43619394del	NC_000006.12:g.43619378_43619394del	NC_000006.12:g.43619379_43619394del	NC_000006.12:g.43619380_43619394del	NC_000006.12:g.43619381_43619394del	NC_000006.12:g.43619382_43619394del	NC_000006.12:g.43619383_43619394del	NC_000006.12:g.43619384_43619394del	NC_000006.12:g.43619385_43619394del	NC_000006.12:g.43619386_43619394del	NC_000006.12:g.43619387_43619394del	NC_000006.12:g.43619388_43619394del	NC_000006.12:g.43619389_43619394del	NC_000006.12:g.43619390_43619394del	NC_000006.12:g.43619391_43619394del	NC_000006.12:g.43619392_43619394del	NC_000006.12:g.43619393_43619394del	NC_000006.12:g.43619394del	NC_000006.12:g.43619394dup	NC_000006.12:g.43619393_43619394dup	NC_000006.12:g.43619392_43619394dup	NC_000006.12:g.43619391_43619394dup	NC_000006.12:g.43619390_43619394dup	NC_000006.12:g.43619389_43619394dup	NC_000006.12:g.43619388_43619394dup	NC_000006.12:g.43619387_43619394dup	NC_000006.12:g.43619386_43619394dup	NC_000006.12:g.43619385_43619394dup
GRCh37.p13 chr 6	NC_000006.11:g.43587102_43587131=	NC_000006.11:g.43587111_43587131del	NC_000006.11:g.43587114_43587131del	NC_000006.11:g.43587115_43587131del	NC_000006.11:g.43587116_43587131del	NC_000006.11:g.43587117_43587131del	NC_000006.11:g.43587118_43587131del	NC_000006.11:g.43587119_43587131del	NC_000006.11:g.43587120_43587131del	NC_000006.11:g.43587121_43587131del	NC_000006.11:g.43587122_43587131del	NC_000006.11:g.43587123_43587131del	NC_000006.11:g.43587124_43587131del	NC_000006.11:g.43587125_43587131del	NC_000006.11:g.43587126_43587131del	NC_000006.11:g.43587127_43587131del	NC_000006.11:g.43587128_43587131del	NC_000006.11:g.43587129_43587131del	NC_000006.11:g.43587130_43587131del	NC_000006.11:g.43587131del	NC_000006.11:g.43587131dup	NC_000006.11:g.43587130_43587131dup	NC_000006.11:g.43587129_43587131dup	NC_000006.11:g.43587128_43587131dup	NC_000006.11:g.43587127_43587131dup	NC_000006.11:g.43587126_43587131dup	NC_000006.11:g.43587125_43587131dup	NC_000006.11:g.43587124_43587131dup	NC_000006.11:g.43587123_43587131dup	NC_000006.11:g.43587122_43587131dup
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48225_48254=	NG_009252.1:g.48234_48254del	NG_009252.1:g.48237_48254del	NG_009252.1:g.48238_48254del	NG_009252.1:g.48239_48254del	NG_009252.1:g.48240_48254del	NG_009252.1:g.48241_48254del	NG_009252.1:g.48242_48254del	NG_009252.1:g.48243_48254del	NG_009252.1:g.48244_48254del	NG_009252.1:g.48245_48254del	NG_009252.1:g.48246_48254del	NG_009252.1:g.48247_48254del	NG_009252.1:g.48248_48254del	NG_009252.1:g.48249_48254del	NG_009252.1:g.48250_48254del	NG_009252.1:g.48251_48254del	NG_009252.1:g.48252_48254del	NG_009252.1:g.48253_48254del	NG_009252.1:g.48254del	NG_009252.1:g.48254dup	NG_009252.1:g.48253_48254dup	NG_009252.1:g.48252_48254dup	NG_009252.1:g.48251_48254dup	NG_009252.1:g.48250_48254dup	NG_009252.1:g.48249_48254dup	NG_009252.1:g.48248_48254dup	NG_009252.1:g.48247_48254dup	NG_009252.1:g.48246_48254dup	NG_009252.1:g.48245_48254dup
POLH transcript variant 1	NM_006502.3:c.4808_4837=	NM_006502.3:c.4817_4837del	NM_006502.3:c.4820_4837del	NM_006502.3:c.4821_4837del	NM_006502.3:c.4822_4837del	NM_006502.3:c.4823_4837del	NM_006502.3:c.4824_4837del	NM_006502.3:c.4825_4837del	NM_006502.3:c.4826_4837del	NM_006502.3:c.4827_4837del	NM_006502.3:c.4828_4837del	NM_006502.3:c.4829_4837del	NM_006502.3:c.4830_4837del	NM_006502.3:c.4831_4837del	NM_006502.3:c.4832_4837del	NM_006502.3:c.4833_4837del	NM_006502.3:c.4834_4837del	NM_006502.3:c.4835_4837del	NM_006502.3:c.4836_4837del	NM_006502.3:c.*4837del	NM_006502.3:c.*4837dup	NM_006502.3:c.4836_4837dup	NM_006502.3:c.4835_4837dup	NM_006502.3:c.4834_4837dup	NM_006502.3:c.4833_4837dup	NM_006502.3:c.4832_4837dup	NM_006502.3:c.4831_4837dup	NM_006502.3:c.4830_4837dup	NM_006502.3:c.4829_4837dup	NM_006502.3:c.4828_4837dup
POLH transcript variant 1	NM_006502.2:c.4808_4837=	NM_006502.2:c.4817_4837del	NM_006502.2:c.4820_4837del	NM_006502.2:c.4821_4837del	NM_006502.2:c.4822_4837del	NM_006502.2:c.4823_4837del	NM_006502.2:c.4824_4837del	NM_006502.2:c.4825_4837del	NM_006502.2:c.4826_4837del	NM_006502.2:c.4827_4837del	NM_006502.2:c.4828_4837del	NM_006502.2:c.4829_4837del	NM_006502.2:c.4830_4837del	NM_006502.2:c.4831_4837del	NM_006502.2:c.4832_4837del	NM_006502.2:c.4833_4837del	NM_006502.2:c.4834_4837del	NM_006502.2:c.4835_4837del	NM_006502.2:c.4836_4837del	NM_006502.2:c.*4837del	NM_006502.2:c.*4837dup	NM_006502.2:c.4836_4837dup	NM_006502.2:c.4835_4837dup	NM_006502.2:c.4834_4837dup	NM_006502.2:c.4833_4837dup	NM_006502.2:c.4832_4837dup	NM_006502.2:c.4831_4837dup	NM_006502.2:c.4830_4837dup	NM_006502.2:c.4829_4837dup	NM_006502.2:c.4828_4837dup
POLH transcript variant 3	NM_001291970.2:c.5634_5663=	NM_001291970.2:c.5643_5663del	NM_001291970.2:c.5646_5663del	NM_001291970.2:c.5647_5663del	NM_001291970.2:c.5648_5663del	NM_001291970.2:c.5649_5663del	NM_001291970.2:c.5650_5663del	NM_001291970.2:c.5651_5663del	NM_001291970.2:c.5652_5663del	NM_001291970.2:c.5653_5663del	NM_001291970.2:c.5654_5663del	NM_001291970.2:c.5655_5663del	NM_001291970.2:c.5656_5663del	NM_001291970.2:c.5657_5663del	NM_001291970.2:c.5658_5663del	NM_001291970.2:c.5659_5663del	NM_001291970.2:c.5660_5663del	NM_001291970.2:c.5661_5663del	NM_001291970.2:c.5662_5663del	NM_001291970.2:c.*5663del	NM_001291970.2:c.*5663dup	NM_001291970.2:c.5662_5663dup	NM_001291970.2:c.5661_5663dup	NM_001291970.2:c.5660_5663dup	NM_001291970.2:c.5659_5663dup	NM_001291970.2:c.5658_5663dup	NM_001291970.2:c.5657_5663dup	NM_001291970.2:c.5656_5663dup	NM_001291970.2:c.5655_5663dup	NM_001291970.2:c.5654_5663dup
POLH transcript variant 3	NM_001291970.1:c.5634_5663=	NM_001291970.1:c.5643_5663del	NM_001291970.1:c.5646_5663del	NM_001291970.1:c.5647_5663del	NM_001291970.1:c.5648_5663del	NM_001291970.1:c.5649_5663del	NM_001291970.1:c.5650_5663del	NM_001291970.1:c.5651_5663del	NM_001291970.1:c.5652_5663del	NM_001291970.1:c.5653_5663del	NM_001291970.1:c.5654_5663del	NM_001291970.1:c.5655_5663del	NM_001291970.1:c.5656_5663del	NM_001291970.1:c.5657_5663del	NM_001291970.1:c.5658_5663del	NM_001291970.1:c.5659_5663del	NM_001291970.1:c.5660_5663del	NM_001291970.1:c.5661_5663del	NM_001291970.1:c.5662_5663del	NM_001291970.1:c.*5663del	NM_001291970.1:c.*5663dup	NM_001291970.1:c.5662_5663dup	NM_001291970.1:c.5661_5663dup	NM_001291970.1:c.5660_5663dup	NM_001291970.1:c.5659_5663dup	NM_001291970.1:c.5658_5663dup	NM_001291970.1:c.5657_5663dup	NM_001291970.1:c.5656_5663dup	NM_001291970.1:c.5655_5663dup	NM_001291970.1:c.5654_5663dup
POLH transcript variant 2	NM_001291969.2:c.4808_4837=	NM_001291969.2:c.4817_4837del	NM_001291969.2:c.4820_4837del	NM_001291969.2:c.4821_4837del	NM_001291969.2:c.4822_4837del	NM_001291969.2:c.4823_4837del	NM_001291969.2:c.4824_4837del	NM_001291969.2:c.4825_4837del	NM_001291969.2:c.4826_4837del	NM_001291969.2:c.4827_4837del	NM_001291969.2:c.4828_4837del	NM_001291969.2:c.4829_4837del	NM_001291969.2:c.4830_4837del	NM_001291969.2:c.4831_4837del	NM_001291969.2:c.4832_4837del	NM_001291969.2:c.4833_4837del	NM_001291969.2:c.4834_4837del	NM_001291969.2:c.4835_4837del	NM_001291969.2:c.4836_4837del	NM_001291969.2:c.*4837del	NM_001291969.2:c.*4837dup	NM_001291969.2:c.4836_4837dup	NM_001291969.2:c.4835_4837dup	NM_001291969.2:c.4834_4837dup	NM_001291969.2:c.4833_4837dup	NM_001291969.2:c.4832_4837dup	NM_001291969.2:c.4831_4837dup	NM_001291969.2:c.4830_4837dup	NM_001291969.2:c.4829_4837dup	NM_001291969.2:c.4828_4837dup
POLH transcript variant 2	NM_001291969.1:c.4808_4837=	NM_001291969.1:c.4817_4837del	NM_001291969.1:c.4820_4837del	NM_001291969.1:c.4821_4837del	NM_001291969.1:c.4822_4837del	NM_001291969.1:c.4823_4837del	NM_001291969.1:c.4824_4837del	NM_001291969.1:c.4825_4837del	NM_001291969.1:c.4826_4837del	NM_001291969.1:c.4827_4837del	NM_001291969.1:c.4828_4837del	NM_001291969.1:c.4829_4837del	NM_001291969.1:c.4830_4837del	NM_001291969.1:c.4831_4837del	NM_001291969.1:c.4832_4837del	NM_001291969.1:c.4833_4837del	NM_001291969.1:c.4834_4837del	NM_001291969.1:c.4835_4837del	NM_001291969.1:c.4836_4837del	NM_001291969.1:c.*4837del	NM_001291969.1:c.*4837dup	NM_001291969.1:c.4836_4837dup	NM_001291969.1:c.4835_4837dup	NM_001291969.1:c.4834_4837dup	NM_001291969.1:c.4833_4837dup	NM_001291969.1:c.4832_4837dup	NM_001291969.1:c.4831_4837dup	NM_001291969.1:c.4830_4837dup	NM_001291969.1:c.4829_4837dup	NM_001291969.1:c.4828_4837dup
POLH transcript variant X1	XM_047418900.1:c.4808_4837=	XM_047418900.1:c.4817_4837del	XM_047418900.1:c.4820_4837del	XM_047418900.1:c.4821_4837del	XM_047418900.1:c.4822_4837del	XM_047418900.1:c.4823_4837del	XM_047418900.1:c.4824_4837del	XM_047418900.1:c.4825_4837del	XM_047418900.1:c.4826_4837del	XM_047418900.1:c.4827_4837del	XM_047418900.1:c.4828_4837del	XM_047418900.1:c.4829_4837del	XM_047418900.1:c.4830_4837del	XM_047418900.1:c.4831_4837del	XM_047418900.1:c.4832_4837del	XM_047418900.1:c.4833_4837del	XM_047418900.1:c.4834_4837del	XM_047418900.1:c.4835_4837del	XM_047418900.1:c.4836_4837del	XM_047418900.1:c.*4837del	XM_047418900.1:c.*4837dup	XM_047418900.1:c.4836_4837dup	XM_047418900.1:c.4835_4837dup	XM_047418900.1:c.4834_4837dup	XM_047418900.1:c.4833_4837dup	XM_047418900.1:c.4832_4837dup	XM_047418900.1:c.4831_4837dup	XM_047418900.1:c.4830_4837dup	XM_047418900.1:c.4829_4837dup	XM_047418900.1:c.4828_4837dup
POLR1C transcript variant 2	NM_001318876.2:c.945+90094=	NM_001318876.2:c.945+90103_945+90123del	NM_001318876.2:c.945+90106_945+90123del	NM_001318876.2:c.945+90107_945+90123del	NM_001318876.2:c.945+90108_945+90123del	NM_001318876.2:c.945+90109_945+90123del	NM_001318876.2:c.945+90110_945+90123del	NM_001318876.2:c.945+90111_945+90123del	NM_001318876.2:c.945+90112_945+90123del	NM_001318876.2:c.945+90113_945+90123del	NM_001318876.2:c.945+90114_945+90123del	NM_001318876.2:c.945+90115_945+90123del	NM_001318876.2:c.945+90116_945+90123del	NM_001318876.2:c.945+90117_945+90123del	NM_001318876.2:c.945+90118_945+90123del	NM_001318876.2:c.945+90119_945+90123del	NM_001318876.2:c.945+90120_945+90123del	NM_001318876.2:c.945+90121_945+90123del	NM_001318876.2:c.945+90122_945+90123del	NM_001318876.2:c.945+90123del	NM_001318876.2:c.945+90123dup	NM_001318876.2:c.945+90122_945+90123dup	NM_001318876.2:c.945+90121_945+90123dup	NM_001318876.2:c.945+90120_945+90123dup	NM_001318876.2:c.945+90119_945+90123dup	NM_001318876.2:c.945+90118_945+90123dup	NM_001318876.2:c.945+90117_945+90123dup	NM_001318876.2:c.945+90116_945+90123dup	NM_001318876.2:c.945+90115_945+90123dup	NM_001318876.2:c.945+90114_945+90123dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

61 SubSNP, 45 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss82327871	Dec 15, 2007 (129)
2	HGSV	ss83003127	Dec 16, 2007 (129)
3	1000GENOMES	ss1375445138	Aug 21, 2014 (142)
4	CLINVAR	ss2137095637	Oct 12, 2018 (152)
5	SWEGEN	ss2998978349	Nov 08, 2017 (151)
6	MCHAISSO	ss3065081538	Nov 08, 2017 (151)
7	EVA_DECODE	ss3717106597	Jul 13, 2019 (153)
8	EVA_DECODE	ss3717106598	Jul 13, 2019 (153)
9	EVA_DECODE	ss3717106599	Jul 13, 2019 (153)
10	EVA_DECODE	ss3717106600	Jul 13, 2019 (153)
11	KHV_HUMAN_GENOMES	ss3808103166	Jul 13, 2019 (153)
12	EVA	ss3829896528	Apr 26, 2020 (154)
13	KOGIC	ss3958928674	Apr 26, 2020 (154)
14	KOGIC	ss3958928675	Apr 26, 2020 (154)
15	KOGIC	ss3958928676	Apr 26, 2020 (154)
16	KOGIC	ss3958928677	Apr 26, 2020 (154)
17	KOGIC	ss3958928678	Apr 26, 2020 (154)
18	KOGIC	ss3958928679	Apr 26, 2020 (154)
19	GNOMAD	ss4140808364	Apr 26, 2021 (155)
20	GNOMAD	ss4140808365	Apr 26, 2021 (155)
21	GNOMAD	ss4140808366	Apr 26, 2021 (155)
22	GNOMAD	ss4140808367	Apr 26, 2021 (155)
23	GNOMAD	ss4140808368	Apr 26, 2021 (155)
24	GNOMAD	ss4140808369	Apr 26, 2021 (155)
25	GNOMAD	ss4140808370	Apr 26, 2021 (155)
26	GNOMAD	ss4140808371	Apr 26, 2021 (155)
27	GNOMAD	ss4140808372	Apr 26, 2021 (155)
28	GNOMAD	ss4140808373	Apr 26, 2021 (155)
29	GNOMAD	ss4140808375	Apr 26, 2021 (155)
30	GNOMAD	ss4140808376	Apr 26, 2021 (155)
31	GNOMAD	ss4140808377	Apr 26, 2021 (155)
32	GNOMAD	ss4140808378	Apr 26, 2021 (155)
33	GNOMAD	ss4140808379	Apr 26, 2021 (155)
34	GNOMAD	ss4140808380	Apr 26, 2021 (155)
35	GNOMAD	ss4140808381	Apr 26, 2021 (155)
36	GNOMAD	ss4140808382	Apr 26, 2021 (155)
37	GNOMAD	ss4140808383	Apr 26, 2021 (155)
38	GNOMAD	ss4140808384	Apr 26, 2021 (155)
39	GNOMAD	ss4140808385	Apr 26, 2021 (155)
40	GNOMAD	ss4140808386	Apr 26, 2021 (155)
41	GNOMAD	ss4140808387	Apr 26, 2021 (155)
42	GNOMAD	ss4140808388	Apr 26, 2021 (155)
43	GNOMAD	ss4140808389	Apr 26, 2021 (155)
44	GNOMAD	ss4140808390	Apr 26, 2021 (155)
45	GNOMAD	ss4140808391	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5177264618	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5177264619	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5177264620	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5177264621	Apr 26, 2021 (155)
50	HUGCELL_USP	ss5465948434	Oct 13, 2022 (156)
51	HUGCELL_USP	ss5465948435	Oct 13, 2022 (156)
52	HUGCELL_USP	ss5465948436	Oct 13, 2022 (156)
53	HUGCELL_USP	ss5465948437	Oct 13, 2022 (156)
54	HUGCELL_USP	ss5465948438	Oct 13, 2022 (156)
55	HUGCELL_USP	ss5465948439	Oct 13, 2022 (156)
56	TOMMO_GENOMICS	ss5715242173	Oct 13, 2022 (156)
57	TOMMO_GENOMICS	ss5715242174	Oct 13, 2022 (156)
58	TOMMO_GENOMICS	ss5715242175	Oct 13, 2022 (156)
59	TOMMO_GENOMICS	ss5715242177	Oct 13, 2022 (156)
60	TOMMO_GENOMICS	ss5715242178	Oct 13, 2022 (156)
61	EVA	ss5842168943	Oct 13, 2022 (156)
62	1000Genomes	NC_000006.11 - 43587102	Oct 12, 2018 (152)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 223635290 (NC_000006.12:43619364::A 2039/35428) Row 223635291 (NC_000006.12:43619364::AA 136/35530) Row 223635292 (NC_000006.12:43619364::AAA 86/35530)...	-	Apr 26, 2021 (155)
91	Korean Genome Project Submission ignored due to conflicting rows: Row 15306675 (NC_000006.12:43619374:A: 91/1464) Row 15306676 (NC_000006.12:43619375::AA 13/1464) Row 15306677 (NC_000006.12:43619375::A 57/1464)...	-	Apr 26, 2020 (154)
92	Korean Genome Project Submission ignored due to conflicting rows: Row 15306675 (NC_000006.12:43619374:A: 91/1464) Row 15306676 (NC_000006.12:43619375::AA 13/1464) Row 15306677 (NC_000006.12:43619375::A 57/1464)...	-	Apr 26, 2020 (154)
93	Korean Genome Project Submission ignored due to conflicting rows: Row 15306675 (NC_000006.12:43619374:A: 91/1464) Row 15306676 (NC_000006.12:43619375::AA 13/1464) Row 15306677 (NC_000006.12:43619375::A 57/1464)...	-	Apr 26, 2020 (154)
94	Korean Genome Project Submission ignored due to conflicting rows: Row 15306675 (NC_000006.12:43619374:A: 91/1464) Row 15306676 (NC_000006.12:43619375::AA 13/1464) Row 15306677 (NC_000006.12:43619375::A 57/1464)...	-	Apr 26, 2020 (154)
95	Korean Genome Project Submission ignored due to conflicting rows: Row 15306675 (NC_000006.12:43619374:A: 91/1464) Row 15306676 (NC_000006.12:43619375::AA 13/1464) Row 15306677 (NC_000006.12:43619375::A 57/1464)...	-	Apr 26, 2020 (154)
96	Korean Genome Project Submission ignored due to conflicting rows: Row 15306675 (NC_000006.12:43619374:A: 91/1464) Row 15306676 (NC_000006.12:43619375::AA 13/1464) Row 15306677 (NC_000006.12:43619375::A 57/1464)...	-	Apr 26, 2020 (154)
97	8.3KJPN Submission ignored due to conflicting rows: Row 35233925 (NC_000006.11:43587101::A 64/15758) Row 35233926 (NC_000006.11:43587101:AAAAAAAAAAA: 3/15758) Row 35233927 (NC_000006.11:43587101:AA: 63/15758)...	-	Apr 26, 2021 (155)
98	8.3KJPN Submission ignored due to conflicting rows: Row 35233925 (NC_000006.11:43587101::A 64/15758) Row 35233926 (NC_000006.11:43587101:AAAAAAAAAAA: 3/15758) Row 35233927 (NC_000006.11:43587101:AA: 63/15758)...	-	Apr 26, 2021 (155)
99	8.3KJPN Submission ignored due to conflicting rows: Row 35233925 (NC_000006.11:43587101::A 64/15758) Row 35233926 (NC_000006.11:43587101:AAAAAAAAAAA: 3/15758) Row 35233927 (NC_000006.11:43587101:AA: 63/15758)...	-	Apr 26, 2021 (155)
100	8.3KJPN Submission ignored due to conflicting rows: Row 35233925 (NC_000006.11:43587101::A 64/15758) Row 35233926 (NC_000006.11:43587101:AAAAAAAAAAA: 3/15758) Row 35233927 (NC_000006.11:43587101:AA: 63/15758)...	-	Apr 26, 2021 (155)
101	14KJPN Submission ignored due to conflicting rows: Row 49079277 (NC_000006.12:43619364::A 171/26166) Row 49079278 (NC_000006.12:43619364:AAAAAAAAAAAA: 6/26166) Row 49079279 (NC_000006.12:43619364:AAAAAAAAAAA: 13/26166)...	-	Oct 13, 2022 (156)
102	14KJPN Submission ignored due to conflicting rows: Row 49079277 (NC_000006.12:43619364::A 171/26166) Row 49079278 (NC_000006.12:43619364:AAAAAAAAAAAA: 6/26166) Row 49079279 (NC_000006.12:43619364:AAAAAAAAAAA: 13/26166)...	-	Oct 13, 2022 (156)
103	14KJPN Submission ignored due to conflicting rows: Row 49079277 (NC_000006.12:43619364::A 171/26166) Row 49079278 (NC_000006.12:43619364:AAAAAAAAAAAA: 6/26166) Row 49079279 (NC_000006.12:43619364:AAAAAAAAAAA: 13/26166)...	-	Oct 13, 2022 (156)
104	14KJPN Submission ignored due to conflicting rows: Row 49079277 (NC_000006.12:43619364::A 171/26166) Row 49079278 (NC_000006.12:43619364:AAAAAAAAAAAA: 6/26166) Row 49079279 (NC_000006.12:43619364:AAAAAAAAAAA: 13/26166)...	-	Oct 13, 2022 (156)
105	14KJPN Submission ignored due to conflicting rows: Row 49079277 (NC_000006.12:43619364::A 171/26166) Row 49079278 (NC_000006.12:43619364:AAAAAAAAAAAA: 6/26166) Row 49079279 (NC_000006.12:43619364:AAAAAAAAAAA: 13/26166)...	-	Oct 13, 2022 (156)
106	ALFA	NC_000006.12 - 43619365	Apr 26, 2021 (155)
107	ClinVar	RCV000371739.5	Oct 13, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4140808391	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4140808390	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4140808389	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4140808388	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss83003127	NC_000006.9:43695094:AAAAAAAAAAAAA… NC_000006.9:43695094:AAAAAAAAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4140808387, ss5465948438	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss82327871	NC_000006.9:43695095:AAAAAAAAAAAAA… NC_000006.9:43695095:AAAAAAAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
31694533, ss1375445138, ss2998978349, ss3829896528, ss5842168943	NC_000006.11:43587101:AAAAAAAAAAAA… NC_000006.11:43587101:AAAAAAAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3717106600, ss3808103166, ss4140808386, ss5465948435	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5177264621	NC_000006.11:43587101:AAAAAAAAAAAA… NC_000006.11:43587101:AAAAAAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3065081538, ss4140808385	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4140808384, ss5465948439, ss5715242174	NC_000006.12:43619364:AAAAAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5177264619	NC_000006.11:43587101:AAAAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3958928679, ss4140808383, ss5715242175	NC_000006.12:43619364:AAAAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4140808382	NC_000006.12:43619364:AAAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4140808381	NC_000006.12:43619364:AAAAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808380	NC_000006.12:43619364:AAAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808379	NC_000006.12:43619364:AAAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808378	NC_000006.12:43619364:AAAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808377	NC_000006.12:43619364:AAAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808376	NC_000006.12:43619364:AAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3958928678	NC_000006.12:43619372:AAA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5177264620	NC_000006.11:43587101:AA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808375, ss5465948437, ss5715242177	NC_000006.12:43619364:AA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3958928677	NC_000006.12:43619373:AA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3717106599	NC_000006.12:43619376:AA:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5465948434, ss5715242178	NC_000006.12:43619364:A:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3958928674	NC_000006.12:43619374:A:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3717106598	NC_000006.12:43619377:A:	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5177264618	NC_000006.11:43587101::A	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808364, ss5465948436, ss5715242173	NC_000006.12:43619364::A	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
RCV000371739.5, 9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3958928676	NC_000006.12:43619375::A	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3717106597	NC_000006.12:43619378::A	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss2137095637	NC_000006.12:43619394::A	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808365	NC_000006.12:43619364::AA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3958928675	NC_000006.12:43619375::AA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808366	NC_000006.12:43619364::AAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808367	NC_000006.12:43619364::AAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808368	NC_000006.12:43619364::AAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9026474730	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808369	NC_000006.12:43619364::AAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808370	NC_000006.12:43619364::AAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808371	NC_000006.12:43619364::AAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808372	NC_000006.12:43619364::AAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4140808373	NC_000006.12:43619364::AAAAAAAAAA	NC_000006.12:43619364:AAAAAAAAAAAA… NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs60046548

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

Placement	(A)₃₀=	del(A)₂₁	del(A)₁₈	del(A)₁₇	del(A)₁₆	del(A)₁₅	del(A)₁₄	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀
GRCh38.p14 chr 6	NC_000006.12:g.43619365_43619394=	NC_000006.12:g.43619374_43619394del	NC_000006.12:g.43619377_43619394del	NC_000006.12:g.43619378_43619394del	NC_000006.12:g.43619379_43619394del	NC_000006.12:g.43619380_43619394del	NC_000006.12:g.43619381_43619394del	NC_000006.12:g.43619382_43619394del	NC_000006.12:g.43619383_43619394del	NC_000006.12:g.43619384_43619394del	NC_000006.12:g.43619385_43619394del	NC_000006.12:g.43619386_43619394del	NC_000006.12:g.43619387_43619394del	NC_000006.12:g.43619388_43619394del	NC_000006.12:g.43619389_43619394del	NC_000006.12:g.43619390_43619394del	NC_000006.12:g.43619391_43619394del	NC_000006.12:g.43619392_43619394del	NC_000006.12:g.43619393_43619394del	NC_000006.12:g.43619394del	NC_000006.12:g.43619394dup	NC_000006.12:g.43619393_43619394dup	NC_000006.12:g.43619392_43619394dup	NC_000006.12:g.43619391_43619394dup	NC_000006.12:g.43619390_43619394dup	NC_000006.12:g.43619389_43619394dup	NC_000006.12:g.43619388_43619394dup	NC_000006.12:g.43619387_43619394dup	NC_000006.12:g.43619386_43619394dup	NC_000006.12:g.43619385_43619394dup
GRCh37.p13 chr 6	NC_000006.11:g.43587102_43587131=	NC_000006.11:g.43587111_43587131del	NC_000006.11:g.43587114_43587131del	NC_000006.11:g.43587115_43587131del	NC_000006.11:g.43587116_43587131del	NC_000006.11:g.43587117_43587131del	NC_000006.11:g.43587118_43587131del	NC_000006.11:g.43587119_43587131del	NC_000006.11:g.43587120_43587131del	NC_000006.11:g.43587121_43587131del	NC_000006.11:g.43587122_43587131del	NC_000006.11:g.43587123_43587131del	NC_000006.11:g.43587124_43587131del	NC_000006.11:g.43587125_43587131del	NC_000006.11:g.43587126_43587131del	NC_000006.11:g.43587127_43587131del	NC_000006.11:g.43587128_43587131del	NC_000006.11:g.43587129_43587131del	NC_000006.11:g.43587130_43587131del	NC_000006.11:g.43587131del	NC_000006.11:g.43587131dup	NC_000006.11:g.43587130_43587131dup	NC_000006.11:g.43587129_43587131dup	NC_000006.11:g.43587128_43587131dup	NC_000006.11:g.43587127_43587131dup	NC_000006.11:g.43587126_43587131dup	NC_000006.11:g.43587125_43587131dup	NC_000006.11:g.43587124_43587131dup	NC_000006.11:g.43587123_43587131dup	NC_000006.11:g.43587122_43587131dup
POLH RefSeqGene (LRG_470)	NG_009252.1:g.48225_48254=	NG_009252.1:g.48234_48254del	NG_009252.1:g.48237_48254del	NG_009252.1:g.48238_48254del	NG_009252.1:g.48239_48254del	NG_009252.1:g.48240_48254del	NG_009252.1:g.48241_48254del	NG_009252.1:g.48242_48254del	NG_009252.1:g.48243_48254del	NG_009252.1:g.48244_48254del	NG_009252.1:g.48245_48254del	NG_009252.1:g.48246_48254del	NG_009252.1:g.48247_48254del	NG_009252.1:g.48248_48254del	NG_009252.1:g.48249_48254del	NG_009252.1:g.48250_48254del	NG_009252.1:g.48251_48254del	NG_009252.1:g.48252_48254del	NG_009252.1:g.48253_48254del	NG_009252.1:g.48254del	NG_009252.1:g.48254dup	NG_009252.1:g.48253_48254dup	NG_009252.1:g.48252_48254dup	NG_009252.1:g.48251_48254dup	NG_009252.1:g.48250_48254dup	NG_009252.1:g.48249_48254dup	NG_009252.1:g.48248_48254dup	NG_009252.1:g.48247_48254dup	NG_009252.1:g.48246_48254dup	NG_009252.1:g.48245_48254dup
POLH transcript variant 1	NM_006502.3:c.4808_4837=	NM_006502.3:c.4817_4837del	NM_006502.3:c.4820_4837del	NM_006502.3:c.4821_4837del	NM_006502.3:c.4822_4837del	NM_006502.3:c.4823_4837del	NM_006502.3:c.4824_4837del	NM_006502.3:c.4825_4837del	NM_006502.3:c.4826_4837del	NM_006502.3:c.4827_4837del	NM_006502.3:c.4828_4837del	NM_006502.3:c.4829_4837del	NM_006502.3:c.4830_4837del	NM_006502.3:c.4831_4837del	NM_006502.3:c.4832_4837del	NM_006502.3:c.4833_4837del	NM_006502.3:c.4834_4837del	NM_006502.3:c.4835_4837del	NM_006502.3:c.4836_4837del	NM_006502.3:c.*4837del	NM_006502.3:c.*4837dup	NM_006502.3:c.4836_4837dup	NM_006502.3:c.4835_4837dup	NM_006502.3:c.4834_4837dup	NM_006502.3:c.4833_4837dup	NM_006502.3:c.4832_4837dup	NM_006502.3:c.4831_4837dup	NM_006502.3:c.4830_4837dup	NM_006502.3:c.4829_4837dup	NM_006502.3:c.4828_4837dup
POLH transcript variant 1	NM_006502.2:c.4808_4837=	NM_006502.2:c.4817_4837del	NM_006502.2:c.4820_4837del	NM_006502.2:c.4821_4837del	NM_006502.2:c.4822_4837del	NM_006502.2:c.4823_4837del	NM_006502.2:c.4824_4837del	NM_006502.2:c.4825_4837del	NM_006502.2:c.4826_4837del	NM_006502.2:c.4827_4837del	NM_006502.2:c.4828_4837del	NM_006502.2:c.4829_4837del	NM_006502.2:c.4830_4837del	NM_006502.2:c.4831_4837del	NM_006502.2:c.4832_4837del	NM_006502.2:c.4833_4837del	NM_006502.2:c.4834_4837del	NM_006502.2:c.4835_4837del	NM_006502.2:c.4836_4837del	NM_006502.2:c.*4837del	NM_006502.2:c.*4837dup	NM_006502.2:c.4836_4837dup	NM_006502.2:c.4835_4837dup	NM_006502.2:c.4834_4837dup	NM_006502.2:c.4833_4837dup	NM_006502.2:c.4832_4837dup	NM_006502.2:c.4831_4837dup	NM_006502.2:c.4830_4837dup	NM_006502.2:c.4829_4837dup	NM_006502.2:c.4828_4837dup
POLH transcript variant 3	NM_001291970.2:c.5634_5663=	NM_001291970.2:c.5643_5663del	NM_001291970.2:c.5646_5663del	NM_001291970.2:c.5647_5663del	NM_001291970.2:c.5648_5663del	NM_001291970.2:c.5649_5663del	NM_001291970.2:c.5650_5663del	NM_001291970.2:c.5651_5663del	NM_001291970.2:c.5652_5663del	NM_001291970.2:c.5653_5663del	NM_001291970.2:c.5654_5663del	NM_001291970.2:c.5655_5663del	NM_001291970.2:c.5656_5663del	NM_001291970.2:c.5657_5663del	NM_001291970.2:c.5658_5663del	NM_001291970.2:c.5659_5663del	NM_001291970.2:c.5660_5663del	NM_001291970.2:c.5661_5663del	NM_001291970.2:c.5662_5663del	NM_001291970.2:c.*5663del	NM_001291970.2:c.*5663dup	NM_001291970.2:c.5662_5663dup	NM_001291970.2:c.5661_5663dup	NM_001291970.2:c.5660_5663dup	NM_001291970.2:c.5659_5663dup	NM_001291970.2:c.5658_5663dup	NM_001291970.2:c.5657_5663dup	NM_001291970.2:c.5656_5663dup	NM_001291970.2:c.5655_5663dup	NM_001291970.2:c.5654_5663dup
POLH transcript variant 3	NM_001291970.1:c.5634_5663=	NM_001291970.1:c.5643_5663del	NM_001291970.1:c.5646_5663del	NM_001291970.1:c.5647_5663del	NM_001291970.1:c.5648_5663del	NM_001291970.1:c.5649_5663del	NM_001291970.1:c.5650_5663del	NM_001291970.1:c.5651_5663del	NM_001291970.1:c.5652_5663del	NM_001291970.1:c.5653_5663del	NM_001291970.1:c.5654_5663del	NM_001291970.1:c.5655_5663del	NM_001291970.1:c.5656_5663del	NM_001291970.1:c.5657_5663del	NM_001291970.1:c.5658_5663del	NM_001291970.1:c.5659_5663del	NM_001291970.1:c.5660_5663del	NM_001291970.1:c.5661_5663del	NM_001291970.1:c.5662_5663del	NM_001291970.1:c.*5663del	NM_001291970.1:c.*5663dup	NM_001291970.1:c.5662_5663dup	NM_001291970.1:c.5661_5663dup	NM_001291970.1:c.5660_5663dup	NM_001291970.1:c.5659_5663dup	NM_001291970.1:c.5658_5663dup	NM_001291970.1:c.5657_5663dup	NM_001291970.1:c.5656_5663dup	NM_001291970.1:c.5655_5663dup	NM_001291970.1:c.5654_5663dup
POLH transcript variant 2	NM_001291969.2:c.4808_4837=	NM_001291969.2:c.4817_4837del	NM_001291969.2:c.4820_4837del	NM_001291969.2:c.4821_4837del	NM_001291969.2:c.4822_4837del	NM_001291969.2:c.4823_4837del	NM_001291969.2:c.4824_4837del	NM_001291969.2:c.4825_4837del	NM_001291969.2:c.4826_4837del	NM_001291969.2:c.4827_4837del	NM_001291969.2:c.4828_4837del	NM_001291969.2:c.4829_4837del	NM_001291969.2:c.4830_4837del	NM_001291969.2:c.4831_4837del	NM_001291969.2:c.4832_4837del	NM_001291969.2:c.4833_4837del	NM_001291969.2:c.4834_4837del	NM_001291969.2:c.4835_4837del	NM_001291969.2:c.4836_4837del	NM_001291969.2:c.*4837del	NM_001291969.2:c.*4837dup	NM_001291969.2:c.4836_4837dup	NM_001291969.2:c.4835_4837dup	NM_001291969.2:c.4834_4837dup	NM_001291969.2:c.4833_4837dup	NM_001291969.2:c.4832_4837dup	NM_001291969.2:c.4831_4837dup	NM_001291969.2:c.4830_4837dup	NM_001291969.2:c.4829_4837dup	NM_001291969.2:c.4828_4837dup
POLH transcript variant 2	NM_001291969.1:c.4808_4837=	NM_001291969.1:c.4817_4837del	NM_001291969.1:c.4820_4837del	NM_001291969.1:c.4821_4837del	NM_001291969.1:c.4822_4837del	NM_001291969.1:c.4823_4837del	NM_001291969.1:c.4824_4837del	NM_001291969.1:c.4825_4837del	NM_001291969.1:c.4826_4837del	NM_001291969.1:c.4827_4837del	NM_001291969.1:c.4828_4837del	NM_001291969.1:c.4829_4837del	NM_001291969.1:c.4830_4837del	NM_001291969.1:c.4831_4837del	NM_001291969.1:c.4832_4837del	NM_001291969.1:c.4833_4837del	NM_001291969.1:c.4834_4837del	NM_001291969.1:c.4835_4837del	NM_001291969.1:c.4836_4837del	NM_001291969.1:c.*4837del	NM_001291969.1:c.*4837dup	NM_001291969.1:c.4836_4837dup	NM_001291969.1:c.4835_4837dup	NM_001291969.1:c.4834_4837dup	NM_001291969.1:c.4833_4837dup	NM_001291969.1:c.4832_4837dup	NM_001291969.1:c.4831_4837dup	NM_001291969.1:c.4830_4837dup	NM_001291969.1:c.4829_4837dup	NM_001291969.1:c.4828_4837dup
POLH transcript variant X1	XM_047418900.1:c.4808_4837=	XM_047418900.1:c.4817_4837del	XM_047418900.1:c.4820_4837del	XM_047418900.1:c.4821_4837del	XM_047418900.1:c.4822_4837del	XM_047418900.1:c.4823_4837del	XM_047418900.1:c.4824_4837del	XM_047418900.1:c.4825_4837del	XM_047418900.1:c.4826_4837del	XM_047418900.1:c.4827_4837del	XM_047418900.1:c.4828_4837del	XM_047418900.1:c.4829_4837del	XM_047418900.1:c.4830_4837del	XM_047418900.1:c.4831_4837del	XM_047418900.1:c.4832_4837del	XM_047418900.1:c.4833_4837del	XM_047418900.1:c.4834_4837del	XM_047418900.1:c.4835_4837del	XM_047418900.1:c.4836_4837del	XM_047418900.1:c.*4837del	XM_047418900.1:c.*4837dup	XM_047418900.1:c.4836_4837dup	XM_047418900.1:c.4835_4837dup	XM_047418900.1:c.4834_4837dup	XM_047418900.1:c.4833_4837dup	XM_047418900.1:c.4832_4837dup	XM_047418900.1:c.4831_4837dup	XM_047418900.1:c.4830_4837dup	XM_047418900.1:c.4829_4837dup	XM_047418900.1:c.4828_4837dup
POLR1C transcript variant 2	NM_001318876.2:c.945+90094=	NM_001318876.2:c.945+90103_945+90123del	NM_001318876.2:c.945+90106_945+90123del	NM_001318876.2:c.945+90107_945+90123del	NM_001318876.2:c.945+90108_945+90123del	NM_001318876.2:c.945+90109_945+90123del	NM_001318876.2:c.945+90110_945+90123del	NM_001318876.2:c.945+90111_945+90123del	NM_001318876.2:c.945+90112_945+90123del	NM_001318876.2:c.945+90113_945+90123del	NM_001318876.2:c.945+90114_945+90123del	NM_001318876.2:c.945+90115_945+90123del	NM_001318876.2:c.945+90116_945+90123del	NM_001318876.2:c.945+90117_945+90123del	NM_001318876.2:c.945+90118_945+90123del	NM_001318876.2:c.945+90119_945+90123del	NM_001318876.2:c.945+90120_945+90123del	NM_001318876.2:c.945+90121_945+90123del	NM_001318876.2:c.945+90122_945+90123del	NM_001318876.2:c.945+90123del	NM_001318876.2:c.945+90123dup	NM_001318876.2:c.945+90122_945+90123dup	NM_001318876.2:c.945+90121_945+90123dup	NM_001318876.2:c.945+90120_945+90123dup	NM_001318876.2:c.945+90119_945+90123dup	NM_001318876.2:c.945+90118_945+90123dup	NM_001318876.2:c.945+90117_945+90123dup	NM_001318876.2:c.945+90116_945+90123dup	NM_001318876.2:c.945+90115_945+90123dup	NM_001318876.2:c.945+90114_945+90123dup

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs60046548