Name: rs77471740
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.

rs77471740

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:157171687-157171724 (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(T)₂₇ / del(T)₂₆ / del(T)₂₅ / d…
del(T)₂₇ / del(T)₂₆ / del(T)₂₅ / del(T)₂₄ / del(T)₂₃ / del(T)₂₂ / del(T)₂₁ / del(T)₂₀ / del(T)₁₉ / del(T)₁₈ / del(T)₁₇ / del(T)₁₆ / del(T)₁₅ / del(T)₁₄ / del(T)₁₃ / del(T)₁₂ / del(T)₁₁ / del(T)₁₀ / del(T)₉ / del(T)₈ / del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupTT / dup(T)₆ / dup(T)₂₄ / dup(T)₂₅
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₂₇=0.0000 (0/7370, ALFA)
del(T)₂₆=0.0000 (0/7370, ALFA)
del(T)₂₅=0.0000 (0/7370, ALFA) (+ 24 more)
del(T)₂₄=0.0000 (0/7370, ALFA)
del(T)₂₃=0.0000 (0/7370, ALFA)
del(T)₂₂=0.0000 (0/7370, ALFA)
del(T)₂₁=0.0000 (0/7370, ALFA)
del(T)₂₀=0.0000 (0/7370, ALFA)
del(T)₁₉=0.0000 (0/7370, ALFA)
del(T)₁₈=0.0000 (0/7370, ALFA)
del(T)₁₇=0.0000 (0/7370, ALFA)
del(T)₁₆=0.0000 (0/7370, ALFA)
del(T)₁₅=0.0000 (0/7370, ALFA)
del(T)₁₄=0.0000 (0/7370, ALFA)
del(T)₁₃=0.0000 (0/7370, ALFA)
del(T)₁₂=0.0000 (0/7370, ALFA)
del(T)₁₁=0.0000 (0/7370, ALFA)
del(T)₁₀=0.0000 (0/7370, ALFA)
del(T)₉=0.0000 (0/7370, ALFA)
del(T)₈=0.0000 (0/7370, ALFA)
del(T)₇=0.0000 (0/7370, ALFA)
del(T)₆=0.0000 (0/7370, ALFA)
del(T)₅=0.0000 (0/7370, ALFA)
del(T)₄=0.0000 (0/7370, ALFA)
delTTT=0.0000 (0/7370, ALFA)
delTT=0.0000 (0/7370, ALFA)
delT=0.0000 (0/7370, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: UBE3C : Intron 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	7370	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
European	Sub	4892	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	1608	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	60	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
African American	Sub	1548	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
Asian	Sub	76	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
East Asian	Sub	56	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	20	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	78	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 2	Sub	404	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	62	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	250	TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=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	7370	(T)₃₈=1.0000	del(T)₂₇=0.0000, del(T)₂₆=0.0000, del(T)₂₅=0.0000, del(T)₂₄=0.0000, del(T)₂₃=0.0000, del(T)₂₂=0.0000, del(T)₂₁=0.0000, del(T)₂₀=0.0000, del(T)₁₉=0.0000, del(T)₁₈=0.0000, del(T)₁₇=0.0000, del(T)₁₆=0.0000, del(T)₁₅=0.0000, del(T)₁₄=0.0000, del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000
Allele Frequency Aggregator	European	Sub	4892	(T)₃₈=1.0000	del(T)₂₇=0.0000, del(T)₂₆=0.0000, del(T)₂₅=0.0000, del(T)₂₄=0.0000, del(T)₂₃=0.0000, del(T)₂₂=0.0000, del(T)₂₁=0.0000, del(T)₂₀=0.0000, del(T)₁₉=0.0000, del(T)₁₈=0.0000, del(T)₁₇=0.0000, del(T)₁₆=0.0000, del(T)₁₅=0.0000, del(T)₁₄=0.0000, del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000
Allele Frequency Aggregator	African	Sub	1608	(T)₃₈=1.0000	del(T)₂₇=0.0000, del(T)₂₆=0.0000, del(T)₂₅=0.0000, del(T)₂₄=0.0000, del(T)₂₃=0.0000, del(T)₂₂=0.0000, del(T)₂₁=0.0000, del(T)₂₀=0.0000, del(T)₁₉=0.0000, del(T)₁₈=0.0000, del(T)₁₇=0.0000, del(T)₁₆=0.0000, del(T)₁₅=0.0000, del(T)₁₄=0.0000, del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	404	(T)₃₈=1.000	del(T)₂₇=0.000, del(T)₂₆=0.000, del(T)₂₅=0.000, del(T)₂₄=0.000, del(T)₂₃=0.000, del(T)₂₂=0.000, del(T)₂₁=0.000, del(T)₂₀=0.000, del(T)₁₉=0.000, del(T)₁₈=0.000, del(T)₁₇=0.000, del(T)₁₆=0.000, del(T)₁₅=0.000, del(T)₁₄=0.000, del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000
Allele Frequency Aggregator	Other	Sub	250	(T)₃₈=1.000	del(T)₂₇=0.000, del(T)₂₆=0.000, del(T)₂₅=0.000, del(T)₂₄=0.000, del(T)₂₃=0.000, del(T)₂₂=0.000, del(T)₂₁=0.000, del(T)₂₀=0.000, del(T)₁₉=0.000, del(T)₁₈=0.000, del(T)₁₇=0.000, del(T)₁₆=0.000, del(T)₁₅=0.000, del(T)₁₄=0.000, del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	78	(T)₃₈=1.00	del(T)₂₇=0.00, del(T)₂₆=0.00, del(T)₂₅=0.00, del(T)₂₄=0.00, del(T)₂₃=0.00, del(T)₂₂=0.00, del(T)₂₁=0.00, del(T)₂₀=0.00, del(T)₁₉=0.00, del(T)₁₈=0.00, del(T)₁₇=0.00, del(T)₁₆=0.00, del(T)₁₅=0.00, del(T)₁₄=0.00, del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00
Allele Frequency Aggregator	Asian	Sub	76	(T)₃₈=1.00	del(T)₂₇=0.00, del(T)₂₆=0.00, del(T)₂₅=0.00, del(T)₂₄=0.00, del(T)₂₃=0.00, del(T)₂₂=0.00, del(T)₂₁=0.00, del(T)₂₀=0.00, del(T)₁₉=0.00, del(T)₁₈=0.00, del(T)₁₇=0.00, del(T)₁₆=0.00, del(T)₁₅=0.00, del(T)₁₄=0.00, del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00
Allele Frequency Aggregator	South Asian	Sub	62	(T)₃₈=1.00	del(T)₂₇=0.00, del(T)₂₆=0.00, del(T)₂₅=0.00, del(T)₂₄=0.00, del(T)₂₃=0.00, del(T)₂₂=0.00, del(T)₂₁=0.00, del(T)₂₀=0.00, del(T)₁₉=0.00, del(T)₁₈=0.00, del(T)₁₇=0.00, del(T)₁₆=0.00, del(T)₁₅=0.00, del(T)₁₄=0.00, del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00

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 7	NC_000007.14:g.157171698_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171699_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171700_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171701_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171702_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171703_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171704_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171705_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171706_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171707_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171708_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171709_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171710_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171711_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171712_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171713_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171714_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171715_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171716_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171717_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171718_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171719_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171720_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171721_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171722_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171723_157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171724del
GRCh38.p14 chr 7	NC_000007.14:g.157171723_157171724dup
GRCh38.p14 chr 7	NC_000007.14:g.157171719_157171724dup
GRCh38.p14 chr 7	NC_000007.14:g.157171701_157171724dup
GRCh38.p14 chr 7	NC_000007.14:g.157171700_157171724dup
GRCh37.p13 chr 7	NC_000007.13:g.156964392_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964393_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964394_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964395_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964396_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964397_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964398_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964399_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964400_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964401_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964402_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964403_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964404_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964405_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964406_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964407_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964408_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964409_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964410_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964411_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964412_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964413_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964414_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964415_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964416_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964417_156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964418del
GRCh37.p13 chr 7	NC_000007.13:g.156964417_156964418dup
GRCh37.p13 chr 7	NC_000007.13:g.156964413_156964418dup
GRCh37.p13 chr 7	NC_000007.13:g.156964395_156964418dup
GRCh37.p13 chr 7	NC_000007.13:g.156964394_156964418dup

Gene: UBE3C, ubiquitin protein ligase E3C (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UBE3C transcript	NM_014671.3:c.342+1248_34… NM_014671.3:c.342+1248_342+1274del	N/A	Intron Variant
UBE3C transcript variant X2	XM_005249564.5:c.267+1248… XM_005249564.5:c.267+1248_267+1274del	N/A	Intron Variant
UBE3C transcript variant X1	XM_047421072.1:c.279+1248… XM_047421072.1:c.279+1248_279+1274del	N/A	Intron Variant
UBE3C transcript variant X3	XM_047421073.1:c.342+1248… XM_047421073.1:c.342+1248_342+1274del	N/A	Intron 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.

Not Reported in ClinVar

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	(T)₃₈=	del(T)₂₇	del(T)₂₆	del(T)₂₅	del(T)₂₄	del(T)₂₃	del(T)₂₂	del(T)₂₁	del(T)₂₀	del(T)₁₉	del(T)₁₈	del(T)₁₇	del(T)₁₆	del(T)₁₅	del(T)₁₄	del(T)₁₃	del(T)₁₂	del(T)₁₁	del(T)₁₀	del(T)₉	del(T)₈	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupTT	dup(T)₆	dup(T)₂₄	dup(T)₂₅
GRCh38.p14 chr 7	NC_000007.14:g.157171687_157171724=	NC_000007.14:g.157171698_157171724del	NC_000007.14:g.157171699_157171724del	NC_000007.14:g.157171700_157171724del	NC_000007.14:g.157171701_157171724del	NC_000007.14:g.157171702_157171724del	NC_000007.14:g.157171703_157171724del	NC_000007.14:g.157171704_157171724del	NC_000007.14:g.157171705_157171724del	NC_000007.14:g.157171706_157171724del	NC_000007.14:g.157171707_157171724del	NC_000007.14:g.157171708_157171724del	NC_000007.14:g.157171709_157171724del	NC_000007.14:g.157171710_157171724del	NC_000007.14:g.157171711_157171724del	NC_000007.14:g.157171712_157171724del	NC_000007.14:g.157171713_157171724del	NC_000007.14:g.157171714_157171724del	NC_000007.14:g.157171715_157171724del	NC_000007.14:g.157171716_157171724del	NC_000007.14:g.157171717_157171724del	NC_000007.14:g.157171718_157171724del	NC_000007.14:g.157171719_157171724del	NC_000007.14:g.157171720_157171724del	NC_000007.14:g.157171721_157171724del	NC_000007.14:g.157171722_157171724del	NC_000007.14:g.157171723_157171724del	NC_000007.14:g.157171724del	NC_000007.14:g.157171723_157171724dup	NC_000007.14:g.157171719_157171724dup	NC_000007.14:g.157171701_157171724dup	NC_000007.14:g.157171700_157171724dup
GRCh37.p13 chr 7	NC_000007.13:g.156964381_156964418=	NC_000007.13:g.156964392_156964418del	NC_000007.13:g.156964393_156964418del	NC_000007.13:g.156964394_156964418del	NC_000007.13:g.156964395_156964418del	NC_000007.13:g.156964396_156964418del	NC_000007.13:g.156964397_156964418del	NC_000007.13:g.156964398_156964418del	NC_000007.13:g.156964399_156964418del	NC_000007.13:g.156964400_156964418del	NC_000007.13:g.156964401_156964418del	NC_000007.13:g.156964402_156964418del	NC_000007.13:g.156964403_156964418del	NC_000007.13:g.156964404_156964418del	NC_000007.13:g.156964405_156964418del	NC_000007.13:g.156964406_156964418del	NC_000007.13:g.156964407_156964418del	NC_000007.13:g.156964408_156964418del	NC_000007.13:g.156964409_156964418del	NC_000007.13:g.156964410_156964418del	NC_000007.13:g.156964411_156964418del	NC_000007.13:g.156964412_156964418del	NC_000007.13:g.156964413_156964418del	NC_000007.13:g.156964414_156964418del	NC_000007.13:g.156964415_156964418del	NC_000007.13:g.156964416_156964418del	NC_000007.13:g.156964417_156964418del	NC_000007.13:g.156964418del	NC_000007.13:g.156964417_156964418dup	NC_000007.13:g.156964413_156964418dup	NC_000007.13:g.156964395_156964418dup	NC_000007.13:g.156964394_156964418dup
UBE3C transcript	NM_014671.2:c.342+1237=	NM_014671.2:c.342+1248_342+1274del	NM_014671.2:c.342+1249_342+1274del	NM_014671.2:c.342+1250_342+1274del	NM_014671.2:c.342+1251_342+1274del	NM_014671.2:c.342+1252_342+1274del	NM_014671.2:c.342+1253_342+1274del	NM_014671.2:c.342+1254_342+1274del	NM_014671.2:c.342+1255_342+1274del	NM_014671.2:c.342+1256_342+1274del	NM_014671.2:c.342+1257_342+1274del	NM_014671.2:c.342+1258_342+1274del	NM_014671.2:c.342+1259_342+1274del	NM_014671.2:c.342+1260_342+1274del	NM_014671.2:c.342+1261_342+1274del	NM_014671.2:c.342+1262_342+1274del	NM_014671.2:c.342+1263_342+1274del	NM_014671.2:c.342+1264_342+1274del	NM_014671.2:c.342+1265_342+1274del	NM_014671.2:c.342+1266_342+1274del	NM_014671.2:c.342+1267_342+1274del	NM_014671.2:c.342+1268_342+1274del	NM_014671.2:c.342+1269_342+1274del	NM_014671.2:c.342+1270_342+1274del	NM_014671.2:c.342+1271_342+1274del	NM_014671.2:c.342+1272_342+1274del	NM_014671.2:c.342+1273_342+1274del	NM_014671.2:c.342+1274del	NM_014671.2:c.342+1273_342+1274dup	NM_014671.2:c.342+1269_342+1274dup	NM_014671.2:c.342+1251_342+1274dup	NM_014671.2:c.342+1250_342+1274dup
UBE3C transcript	NM_014671.3:c.342+1237=	NM_014671.3:c.342+1248_342+1274del	NM_014671.3:c.342+1249_342+1274del	NM_014671.3:c.342+1250_342+1274del	NM_014671.3:c.342+1251_342+1274del	NM_014671.3:c.342+1252_342+1274del	NM_014671.3:c.342+1253_342+1274del	NM_014671.3:c.342+1254_342+1274del	NM_014671.3:c.342+1255_342+1274del	NM_014671.3:c.342+1256_342+1274del	NM_014671.3:c.342+1257_342+1274del	NM_014671.3:c.342+1258_342+1274del	NM_014671.3:c.342+1259_342+1274del	NM_014671.3:c.342+1260_342+1274del	NM_014671.3:c.342+1261_342+1274del	NM_014671.3:c.342+1262_342+1274del	NM_014671.3:c.342+1263_342+1274del	NM_014671.3:c.342+1264_342+1274del	NM_014671.3:c.342+1265_342+1274del	NM_014671.3:c.342+1266_342+1274del	NM_014671.3:c.342+1267_342+1274del	NM_014671.3:c.342+1268_342+1274del	NM_014671.3:c.342+1269_342+1274del	NM_014671.3:c.342+1270_342+1274del	NM_014671.3:c.342+1271_342+1274del	NM_014671.3:c.342+1272_342+1274del	NM_014671.3:c.342+1273_342+1274del	NM_014671.3:c.342+1274del	NM_014671.3:c.342+1273_342+1274dup	NM_014671.3:c.342+1269_342+1274dup	NM_014671.3:c.342+1251_342+1274dup	NM_014671.3:c.342+1250_342+1274dup
UBE3C transcript variant X1	XM_005249563.1:c.279+1237=	XM_005249563.1:c.279+1248_279+1274del	XM_005249563.1:c.279+1249_279+1274del	XM_005249563.1:c.279+1250_279+1274del	XM_005249563.1:c.279+1251_279+1274del	XM_005249563.1:c.279+1252_279+1274del	XM_005249563.1:c.279+1253_279+1274del	XM_005249563.1:c.279+1254_279+1274del	XM_005249563.1:c.279+1255_279+1274del	XM_005249563.1:c.279+1256_279+1274del	XM_005249563.1:c.279+1257_279+1274del	XM_005249563.1:c.279+1258_279+1274del	XM_005249563.1:c.279+1259_279+1274del	XM_005249563.1:c.279+1260_279+1274del	XM_005249563.1:c.279+1261_279+1274del	XM_005249563.1:c.279+1262_279+1274del	XM_005249563.1:c.279+1263_279+1274del	XM_005249563.1:c.279+1264_279+1274del	XM_005249563.1:c.279+1265_279+1274del	XM_005249563.1:c.279+1266_279+1274del	XM_005249563.1:c.279+1267_279+1274del	XM_005249563.1:c.279+1268_279+1274del	XM_005249563.1:c.279+1269_279+1274del	XM_005249563.1:c.279+1270_279+1274del	XM_005249563.1:c.279+1271_279+1274del	XM_005249563.1:c.279+1272_279+1274del	XM_005249563.1:c.279+1273_279+1274del	XM_005249563.1:c.279+1274del	XM_005249563.1:c.279+1273_279+1274dup	XM_005249563.1:c.279+1269_279+1274dup	XM_005249563.1:c.279+1251_279+1274dup	XM_005249563.1:c.279+1250_279+1274dup
UBE3C transcript variant X2	XM_005249564.1:c.267+1237=	XM_005249564.1:c.267+1248_267+1274del	XM_005249564.1:c.267+1249_267+1274del	XM_005249564.1:c.267+1250_267+1274del	XM_005249564.1:c.267+1251_267+1274del	XM_005249564.1:c.267+1252_267+1274del	XM_005249564.1:c.267+1253_267+1274del	XM_005249564.1:c.267+1254_267+1274del	XM_005249564.1:c.267+1255_267+1274del	XM_005249564.1:c.267+1256_267+1274del	XM_005249564.1:c.267+1257_267+1274del	XM_005249564.1:c.267+1258_267+1274del	XM_005249564.1:c.267+1259_267+1274del	XM_005249564.1:c.267+1260_267+1274del	XM_005249564.1:c.267+1261_267+1274del	XM_005249564.1:c.267+1262_267+1274del	XM_005249564.1:c.267+1263_267+1274del	XM_005249564.1:c.267+1264_267+1274del	XM_005249564.1:c.267+1265_267+1274del	XM_005249564.1:c.267+1266_267+1274del	XM_005249564.1:c.267+1267_267+1274del	XM_005249564.1:c.267+1268_267+1274del	XM_005249564.1:c.267+1269_267+1274del	XM_005249564.1:c.267+1270_267+1274del	XM_005249564.1:c.267+1271_267+1274del	XM_005249564.1:c.267+1272_267+1274del	XM_005249564.1:c.267+1273_267+1274del	XM_005249564.1:c.267+1274del	XM_005249564.1:c.267+1273_267+1274dup	XM_005249564.1:c.267+1269_267+1274dup	XM_005249564.1:c.267+1251_267+1274dup	XM_005249564.1:c.267+1250_267+1274dup
UBE3C transcript variant X2	XM_005249564.5:c.267+1237=	XM_005249564.5:c.267+1248_267+1274del	XM_005249564.5:c.267+1249_267+1274del	XM_005249564.5:c.267+1250_267+1274del	XM_005249564.5:c.267+1251_267+1274del	XM_005249564.5:c.267+1252_267+1274del	XM_005249564.5:c.267+1253_267+1274del	XM_005249564.5:c.267+1254_267+1274del	XM_005249564.5:c.267+1255_267+1274del	XM_005249564.5:c.267+1256_267+1274del	XM_005249564.5:c.267+1257_267+1274del	XM_005249564.5:c.267+1258_267+1274del	XM_005249564.5:c.267+1259_267+1274del	XM_005249564.5:c.267+1260_267+1274del	XM_005249564.5:c.267+1261_267+1274del	XM_005249564.5:c.267+1262_267+1274del	XM_005249564.5:c.267+1263_267+1274del	XM_005249564.5:c.267+1264_267+1274del	XM_005249564.5:c.267+1265_267+1274del	XM_005249564.5:c.267+1266_267+1274del	XM_005249564.5:c.267+1267_267+1274del	XM_005249564.5:c.267+1268_267+1274del	XM_005249564.5:c.267+1269_267+1274del	XM_005249564.5:c.267+1270_267+1274del	XM_005249564.5:c.267+1271_267+1274del	XM_005249564.5:c.267+1272_267+1274del	XM_005249564.5:c.267+1273_267+1274del	XM_005249564.5:c.267+1274del	XM_005249564.5:c.267+1273_267+1274dup	XM_005249564.5:c.267+1269_267+1274dup	XM_005249564.5:c.267+1251_267+1274dup	XM_005249564.5:c.267+1250_267+1274dup
UBE3C transcript variant X3	XM_005249565.1:c.342+1237=	XM_005249565.1:c.342+1248_342+1274del	XM_005249565.1:c.342+1249_342+1274del	XM_005249565.1:c.342+1250_342+1274del	XM_005249565.1:c.342+1251_342+1274del	XM_005249565.1:c.342+1252_342+1274del	XM_005249565.1:c.342+1253_342+1274del	XM_005249565.1:c.342+1254_342+1274del	XM_005249565.1:c.342+1255_342+1274del	XM_005249565.1:c.342+1256_342+1274del	XM_005249565.1:c.342+1257_342+1274del	XM_005249565.1:c.342+1258_342+1274del	XM_005249565.1:c.342+1259_342+1274del	XM_005249565.1:c.342+1260_342+1274del	XM_005249565.1:c.342+1261_342+1274del	XM_005249565.1:c.342+1262_342+1274del	XM_005249565.1:c.342+1263_342+1274del	XM_005249565.1:c.342+1264_342+1274del	XM_005249565.1:c.342+1265_342+1274del	XM_005249565.1:c.342+1266_342+1274del	XM_005249565.1:c.342+1267_342+1274del	XM_005249565.1:c.342+1268_342+1274del	XM_005249565.1:c.342+1269_342+1274del	XM_005249565.1:c.342+1270_342+1274del	XM_005249565.1:c.342+1271_342+1274del	XM_005249565.1:c.342+1272_342+1274del	XM_005249565.1:c.342+1273_342+1274del	XM_005249565.1:c.342+1274del	XM_005249565.1:c.342+1273_342+1274dup	XM_005249565.1:c.342+1269_342+1274dup	XM_005249565.1:c.342+1251_342+1274dup	XM_005249565.1:c.342+1250_342+1274dup
UBE3C transcript variant X1	XM_047421072.1:c.279+1237=	XM_047421072.1:c.279+1248_279+1274del	XM_047421072.1:c.279+1249_279+1274del	XM_047421072.1:c.279+1250_279+1274del	XM_047421072.1:c.279+1251_279+1274del	XM_047421072.1:c.279+1252_279+1274del	XM_047421072.1:c.279+1253_279+1274del	XM_047421072.1:c.279+1254_279+1274del	XM_047421072.1:c.279+1255_279+1274del	XM_047421072.1:c.279+1256_279+1274del	XM_047421072.1:c.279+1257_279+1274del	XM_047421072.1:c.279+1258_279+1274del	XM_047421072.1:c.279+1259_279+1274del	XM_047421072.1:c.279+1260_279+1274del	XM_047421072.1:c.279+1261_279+1274del	XM_047421072.1:c.279+1262_279+1274del	XM_047421072.1:c.279+1263_279+1274del	XM_047421072.1:c.279+1264_279+1274del	XM_047421072.1:c.279+1265_279+1274del	XM_047421072.1:c.279+1266_279+1274del	XM_047421072.1:c.279+1267_279+1274del	XM_047421072.1:c.279+1268_279+1274del	XM_047421072.1:c.279+1269_279+1274del	XM_047421072.1:c.279+1270_279+1274del	XM_047421072.1:c.279+1271_279+1274del	XM_047421072.1:c.279+1272_279+1274del	XM_047421072.1:c.279+1273_279+1274del	XM_047421072.1:c.279+1274del	XM_047421072.1:c.279+1273_279+1274dup	XM_047421072.1:c.279+1269_279+1274dup	XM_047421072.1:c.279+1251_279+1274dup	XM_047421072.1:c.279+1250_279+1274dup
UBE3C transcript variant X3	XM_047421073.1:c.342+1237=	XM_047421073.1:c.342+1248_342+1274del	XM_047421073.1:c.342+1249_342+1274del	XM_047421073.1:c.342+1250_342+1274del	XM_047421073.1:c.342+1251_342+1274del	XM_047421073.1:c.342+1252_342+1274del	XM_047421073.1:c.342+1253_342+1274del	XM_047421073.1:c.342+1254_342+1274del	XM_047421073.1:c.342+1255_342+1274del	XM_047421073.1:c.342+1256_342+1274del	XM_047421073.1:c.342+1257_342+1274del	XM_047421073.1:c.342+1258_342+1274del	XM_047421073.1:c.342+1259_342+1274del	XM_047421073.1:c.342+1260_342+1274del	XM_047421073.1:c.342+1261_342+1274del	XM_047421073.1:c.342+1262_342+1274del	XM_047421073.1:c.342+1263_342+1274del	XM_047421073.1:c.342+1264_342+1274del	XM_047421073.1:c.342+1265_342+1274del	XM_047421073.1:c.342+1266_342+1274del	XM_047421073.1:c.342+1267_342+1274del	XM_047421073.1:c.342+1268_342+1274del	XM_047421073.1:c.342+1269_342+1274del	XM_047421073.1:c.342+1270_342+1274del	XM_047421073.1:c.342+1271_342+1274del	XM_047421073.1:c.342+1272_342+1274del	XM_047421073.1:c.342+1273_342+1274del	XM_047421073.1:c.342+1274del	XM_047421073.1:c.342+1273_342+1274dup	XM_047421073.1:c.342+1269_342+1274dup	XM_047421073.1:c.342+1251_342+1274dup	XM_047421073.1:c.342+1250_342+1274dup

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#.

33 SubSNP, 31 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCMHGSC_JDW	ss103761717	Dec 01, 2009 (131)
2	EVA_DECODE	ss3721095079	Jul 13, 2019 (153)
3	EVA_DECODE	ss3721095082	Jul 13, 2019 (153)
4	GNOMAD	ss4176577605	Apr 26, 2021 (155)
5	GNOMAD	ss4176577606	Apr 26, 2021 (155)
6	GNOMAD	ss4176577607	Apr 26, 2021 (155)
7	GNOMAD	ss4176577608	Apr 26, 2021 (155)
8	GNOMAD	ss4176577609	Apr 26, 2021 (155)
9	GNOMAD	ss4176577610	Apr 26, 2021 (155)
10	GNOMAD	ss4176577611	Apr 26, 2021 (155)
11	GNOMAD	ss4176577612	Apr 26, 2021 (155)
12	GNOMAD	ss4176577613	Apr 26, 2021 (155)
13	GNOMAD	ss4176577614	Apr 26, 2021 (155)
14	GNOMAD	ss4176577615	Apr 26, 2021 (155)
15	GNOMAD	ss4176577616	Apr 26, 2021 (155)
16	GNOMAD	ss4176577617	Apr 26, 2021 (155)
17	GNOMAD	ss4176577618	Apr 26, 2021 (155)
18	GNOMAD	ss4176577619	Apr 26, 2021 (155)
19	GNOMAD	ss4176577620	Apr 26, 2021 (155)
20	GNOMAD	ss4176577621	Apr 26, 2021 (155)
21	GNOMAD	ss4176577622	Apr 26, 2021 (155)
22	GNOMAD	ss4176577623	Apr 26, 2021 (155)
23	GNOMAD	ss4176577624	Apr 26, 2021 (155)
24	GNOMAD	ss4176577625	Apr 26, 2021 (155)
25	GNOMAD	ss4176577626	Apr 26, 2021 (155)
26	GNOMAD	ss4176577627	Apr 26, 2021 (155)
27	GNOMAD	ss4176577628	Apr 26, 2021 (155)
28	GNOMAD	ss4176577629	Apr 26, 2021 (155)
29	GNOMAD	ss4176577630	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5727806270	Oct 13, 2022 (156)
31	TOMMO_GENOMICS	ss5727806272	Oct 13, 2022 (156)
32	TOMMO_GENOMICS	ss5727806273	Oct 13, 2022 (156)
33	TOMMO_GENOMICS	ss5727806274	Oct 13, 2022 (156)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 282451774 (NC_000007.14:157171686::TT 1/35008) Row 282451775 (NC_000007.14:157171686::TTTTTT 1/35010) Row 282451776 (NC_000007.14:157171686::TTTTTTTTTTTTTTTTTTTTTTTT 1/35010)...	-	Apr 26, 2021 (155)
60	14KJPN Submission ignored due to conflicting rows: Row 61643374 (NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTT: 2459/26458) Row 61643376 (NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTT: 1224/26458) Row 61643377 (NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTT: 332/26458)...	-	Oct 13, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 61643374 (NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTT: 2459/26458) Row 61643376 (NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTT: 1224/26458) Row 61643377 (NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTT: 332/26458)...	-	Oct 13, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 61643374 (NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTT: 2459/26458) Row 61643376 (NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTT: 1224/26458) Row 61643377 (NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTT: 332/26458)...	-	Oct 13, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 61643374 (NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTT: 2459/26458) Row 61643376 (NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTT: 1224/26458) Row 61643377 (NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTT: 332/26458)...	-	Oct 13, 2022 (156)
64	ALFA	NC_000007.14 - 157171687	Apr 26, 2021 (155)

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:

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI
ss2469011243	NC_000007.13:156964380:TTTTTTTTTTT… NC_000007.13:156964380:TTTTTTTTTTTTTTTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT
ss3549664105	NC_000007.14:157171686:T:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ss3549664112	NC_000007.14:157171686:TTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ss3549664120	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
ss3549664121	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

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

No publications for rs77471740

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

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4176577630	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss103761717	NT_007741.14:2593758:TTTTTTTTTTTTT… NT_007741.14:2593758:TTTTTTTTTTTTTTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4176577629	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4176577628	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4176577627	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3721095079, ss4176577626, ss5727806272	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4176577625, ss5727806270	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4176577624, ss5727806274	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3721095082	NC_000007.14:157171688:TTTTTTTTTTT… NC_000007.14:157171688:TTTTTTTTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4176577623, ss5727806273	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4176577622	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4176577621	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4176577620	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4176577619	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4176577618	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4176577617	NC_000007.14:157171686:TTTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4176577616	NC_000007.14:157171686:TTTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4176577615	NC_000007.14:157171686:TTTTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4176577614	NC_000007.14:157171686:TTTTTTT:	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
14181608111	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:157171686:TTTTTTTTTTT… NC_000007.14:157171686:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs77471740