Name: rs56291639
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.

rs56291639

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:55996004-55996013 (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: delTTT / delTT / delT / dupT / dup…
delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₀ / ins(T)₁₁ / ins(T)₁₂ / ins(T)₁₃ / ins(T)₁₄ / ins(T)₁₅ / ins(T)₁₆ / ins(T)₁₇ / ins(T)₁₈ / ins(T)₁₉ / ins(T)₂₀ / ins(T)₂₁ / ins(T)₂₂ / ins(T)₂₃ / ins(T)₂₄ / ins(T)₂₇ / ins(T)₂₈
Variation Type: Indel Insertion and Deletion
Frequency: delTTT=0.0000 (0/9888, ALFA)
delTT=0.0000 (0/9888, ALFA)
delT=0.0000 (0/9888, ALFA) (+ 19 more)
dupT=0.0000 (0/9888, ALFA)
dupTT=0.0000 (0/9888, ALFA)
dupTTT=0.0000 (0/9888, ALFA)
dup(T)₄=0.0000 (0/9888, ALFA)
dup(T)₅=0.0000 (0/9888, ALFA)
dup(T)₆=0.0000 (0/9888, ALFA)
dup(T)₇=0.0000 (0/9888, ALFA)
dup(T)₈=0.0000 (0/9888, ALFA)
dup(T)₉=0.0000 (0/9888, ALFA)
dup(T)₁₀=0.0000 (0/9888, ALFA)
ins(T)₁₁=0.0000 (0/9888, ALFA)
ins(T)₁₂=0.0000 (0/9888, ALFA)
ins(T)₁₃=0.0000 (0/9888, ALFA)
ins(T)₁₄=0.0000 (0/9888, ALFA)
ins(T)₁₅=0.0000 (0/9888, ALFA)
ins(T)₁₆=0.0000 (0/9888, ALFA)
ins(T)₁₇=0.0000 (0/9888, ALFA)
ins(T)₁₉=0.0000 (0/9888, ALFA)
ins(T)₂₀=0.0000 (0/9888, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RAB5B : 3 Prime UTR Variant
SUOX : 2KB Upstream 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	9888	TTTTTTTTTT=1.0000	TTTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTT=0.0000, 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, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
European	Sub	6136	TTTTTTTTTT=1.0000	TTTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTT=0.0000, 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, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	2476	TTTTTTTTTT=1.0000	TTTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTT=0.0000, 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, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	98	TTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, 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, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
African American	Sub	2378	TTTTTTTTTT=1.0000	TTTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTT=0.0000, 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, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
Asian	Sub	92	TTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, 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, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
East Asian	Sub	70	TTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, 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, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	22	TTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, 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, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	124	TTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.000, 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, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
Latin American 2	Sub	552	TTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.000, 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, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	88	TTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, 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, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	420	TTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.000, 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, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=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	9888	(T)₁₀=1.0000	delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000, dup(T)₈=0.0000, dup(T)₉=0.0000, dup(T)₁₀=0.0000, ins(T)₁₁=0.0000, ins(T)₁₂=0.0000, ins(T)₁₃=0.0000, ins(T)₁₄=0.0000, ins(T)₁₅=0.0000, ins(T)₁₆=0.0000, ins(T)₁₇=0.0000, ins(T)₁₉=0.0000, ins(T)₂₀=0.0000
Allele Frequency Aggregator	European	Sub	6136	(T)₁₀=1.0000	delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000, dup(T)₈=0.0000, dup(T)₉=0.0000, dup(T)₁₀=0.0000, ins(T)₁₁=0.0000, ins(T)₁₂=0.0000, ins(T)₁₃=0.0000, ins(T)₁₄=0.0000, ins(T)₁₅=0.0000, ins(T)₁₆=0.0000, ins(T)₁₇=0.0000, ins(T)₁₉=0.0000, ins(T)₂₀=0.0000
Allele Frequency Aggregator	African	Sub	2476	(T)₁₀=1.0000	delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000, dup(T)₈=0.0000, dup(T)₉=0.0000, dup(T)₁₀=0.0000, ins(T)₁₁=0.0000, ins(T)₁₂=0.0000, ins(T)₁₃=0.0000, ins(T)₁₄=0.0000, ins(T)₁₅=0.0000, ins(T)₁₆=0.0000, ins(T)₁₇=0.0000, ins(T)₁₉=0.0000, ins(T)₂₀=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	552	(T)₁₀=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, dup(T)₈=0.000, dup(T)₉=0.000, dup(T)₁₀=0.000, ins(T)₁₁=0.000, ins(T)₁₂=0.000, ins(T)₁₃=0.000, ins(T)₁₄=0.000, ins(T)₁₅=0.000, ins(T)₁₆=0.000, ins(T)₁₇=0.000, ins(T)₁₉=0.000, ins(T)₂₀=0.000
Allele Frequency Aggregator	Other	Sub	420	(T)₁₀=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, dup(T)₈=0.000, dup(T)₉=0.000, dup(T)₁₀=0.000, ins(T)₁₁=0.000, ins(T)₁₂=0.000, ins(T)₁₃=0.000, ins(T)₁₄=0.000, ins(T)₁₅=0.000, ins(T)₁₆=0.000, ins(T)₁₇=0.000, ins(T)₁₉=0.000, ins(T)₂₀=0.000
Allele Frequency Aggregator	Latin American 1	Sub	124	(T)₁₀=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, dup(T)₈=0.000, dup(T)₉=0.000, dup(T)₁₀=0.000, ins(T)₁₁=0.000, ins(T)₁₂=0.000, ins(T)₁₃=0.000, ins(T)₁₄=0.000, ins(T)₁₅=0.000, ins(T)₁₆=0.000, ins(T)₁₇=0.000, ins(T)₁₉=0.000, ins(T)₂₀=0.000
Allele Frequency Aggregator	Asian	Sub	92	(T)₁₀=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₉=0.00, dup(T)₁₀=0.00, ins(T)₁₁=0.00, ins(T)₁₂=0.00, ins(T)₁₃=0.00, ins(T)₁₄=0.00, ins(T)₁₅=0.00, ins(T)₁₆=0.00, ins(T)₁₇=0.00, ins(T)₁₉=0.00, ins(T)₂₀=0.00
Allele Frequency Aggregator	South Asian	Sub	88	(T)₁₀=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₉=0.00, dup(T)₁₀=0.00, ins(T)₁₁=0.00, ins(T)₁₂=0.00, ins(T)₁₃=0.00, ins(T)₁₄=0.00, ins(T)₁₅=0.00, ins(T)₁₆=0.00, ins(T)₁₇=0.00, ins(T)₁₉=0.00, ins(T)₂₀=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 12	NC_000012.12:g.55996011_55996013del
GRCh38.p14 chr 12	NC_000012.12:g.55996012_55996013del
GRCh38.p14 chr 12	NC_000012.12:g.55996013del
GRCh38.p14 chr 12	NC_000012.12:g.55996013dup
GRCh38.p14 chr 12	NC_000012.12:g.55996012_55996013dup
GRCh38.p14 chr 12	NC_000012.12:g.55996011_55996013dup
GRCh38.p14 chr 12	NC_000012.12:g.55996010_55996013dup
GRCh38.p14 chr 12	NC_000012.12:g.55996009_55996013dup
GRCh38.p14 chr 12	NC_000012.12:g.55996008_55996013dup
GRCh38.p14 chr 12	NC_000012.12:g.55996007_55996013dup
GRCh38.p14 chr 12	NC_000012.12:g.55996006_55996013dup
GRCh38.p14 chr 12	NC_000012.12:g.55996005_55996013dup
GRCh38.p14 chr 12	NC_000012.12:g.55996004_55996013dup
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389795_56389797del
GRCh37.p13 chr 12	NC_000012.11:g.56389796_56389797del
GRCh37.p13 chr 12	NC_000012.11:g.56389797del
GRCh37.p13 chr 12	NC_000012.11:g.56389797dup
GRCh37.p13 chr 12	NC_000012.11:g.56389796_56389797dup
GRCh37.p13 chr 12	NC_000012.11:g.56389795_56389797dup
GRCh37.p13 chr 12	NC_000012.11:g.56389794_56389797dup
GRCh37.p13 chr 12	NC_000012.11:g.56389793_56389797dup
GRCh37.p13 chr 12	NC_000012.11:g.56389792_56389797dup
GRCh37.p13 chr 12	NC_000012.11:g.56389791_56389797dup
GRCh37.p13 chr 12	NC_000012.11:g.56389790_56389797dup
GRCh37.p13 chr 12	NC_000012.11:g.56389789_56389797dup
GRCh37.p13 chr 12	NC_000012.11:g.56389788_56389797dup
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3753_3755del
SUOX RefSeqGene	NG_008136.1:g.3754_3755del
SUOX RefSeqGene	NG_008136.1:g.3755del
SUOX RefSeqGene	NG_008136.1:g.3755dup
SUOX RefSeqGene	NG_008136.1:g.3754_3755dup
SUOX RefSeqGene	NG_008136.1:g.3753_3755dup
SUOX RefSeqGene	NG_008136.1:g.3752_3755dup
SUOX RefSeqGene	NG_008136.1:g.3751_3755dup
SUOX RefSeqGene	NG_008136.1:g.3750_3755dup
SUOX RefSeqGene	NG_008136.1:g.3749_3755dup
SUOX RefSeqGene	NG_008136.1:g.3748_3755dup
SUOX RefSeqGene	NG_008136.1:g.3747_3755dup
SUOX RefSeqGene	NG_008136.1:g.3746_3755dup
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: RAB5B, RAB5B, member RAS oncogene family (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RAB5B transcript variant 1	NM_002868.4:c.3792_3801=	N/A	3 Prime UTR Variant
RAB5B transcript variant 3	NM_001252037.2:c.3792_3… NM_001252037.2:c.3792_3801=	N/A	3 Prime UTR Variant
RAB5B transcript variant 2	NM_001252036.2:c.3792_3… NM_001252036.2:c.3792_3801=	N/A	3 Prime UTR Variant
RAB5B transcript variant X1	XM_047429281.1:c.3792_3… XM_047429281.1:c.3792_3801=	N/A	3 Prime UTR Variant
RAB5B transcript variant X2	XM_005269051.4:c.3792_3… XM_005269051.4:c.3792_3801=	N/A	3 Prime UTR Variant

Gene: SUOX, sulfite oxidase (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
SUOX transcript variant 1	NM_000456.3:c.	N/A	Upstream Transcript Variant
SUOX transcript variant 2	NM_001032386.2:c.	N/A	Upstream Transcript Variant
SUOX transcript variant 3	NM_001032387.2:c.	N/A	Upstream Transcript 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)₁₀=	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀	ins(T)₁₁	ins(T)₁₂	ins(T)₁₃	ins(T)₁₄	ins(T)₁₅	ins(T)₁₆	ins(T)₁₇	ins(T)₁₈	ins(T)₁₉	ins(T)₂₀	ins(T)₂₁	ins(T)₂₂	ins(T)₂₃	ins(T)₂₄	ins(T)₂₇	ins(T)₂₈
GRCh38.p14 chr 12	NC_000012.12:g.55996004_55996013=	NC_000012.12:g.55996011_55996013del	NC_000012.12:g.55996012_55996013del	NC_000012.12:g.55996013del	NC_000012.12:g.55996013dup	NC_000012.12:g.55996012_55996013dup	NC_000012.12:g.55996011_55996013dup	NC_000012.12:g.55996010_55996013dup	NC_000012.12:g.55996009_55996013dup	NC_000012.12:g.55996008_55996013dup	NC_000012.12:g.55996007_55996013dup	NC_000012.12:g.55996006_55996013dup	NC_000012.12:g.55996005_55996013dup	NC_000012.12:g.55996004_55996013dup	NC_000012.12:g.55996013_55996014insTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389788_56389797=	NC_000012.11:g.56389795_56389797del	NC_000012.11:g.56389796_56389797del	NC_000012.11:g.56389797del	NC_000012.11:g.56389797dup	NC_000012.11:g.56389796_56389797dup	NC_000012.11:g.56389795_56389797dup	NC_000012.11:g.56389794_56389797dup	NC_000012.11:g.56389793_56389797dup	NC_000012.11:g.56389792_56389797dup	NC_000012.11:g.56389791_56389797dup	NC_000012.11:g.56389790_56389797dup	NC_000012.11:g.56389789_56389797dup	NC_000012.11:g.56389788_56389797dup	NC_000012.11:g.56389797_56389798insTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3746_3755=	NG_008136.1:g.3753_3755del	NG_008136.1:g.3754_3755del	NG_008136.1:g.3755del	NG_008136.1:g.3755dup	NG_008136.1:g.3754_3755dup	NG_008136.1:g.3753_3755dup	NG_008136.1:g.3752_3755dup	NG_008136.1:g.3751_3755dup	NG_008136.1:g.3750_3755dup	NG_008136.1:g.3749_3755dup	NG_008136.1:g.3748_3755dup	NG_008136.1:g.3747_3755dup	NG_008136.1:g.3746_3755dup	NG_008136.1:g.3755_3756insTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant X2	XM_005269051.4:c.3792_3801=	XM_005269051.4:c.3799_3801del	XM_005269051.4:c.3800_3801del	XM_005269051.4:c.*3801del	XM_005269051.4:c.*3801dup	XM_005269051.4:c.3800_3801dup	XM_005269051.4:c.3799_3801dup	XM_005269051.4:c.3798_3801dup	XM_005269051.4:c.3797_3801dup	XM_005269051.4:c.3796_3801dup	XM_005269051.4:c.3795_3801dup	XM_005269051.4:c.3794_3801dup	XM_005269051.4:c.3793_3801dup	XM_005269051.4:c.3792_3801dup	XM_005269051.4:c.3801_3802insTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant X1	XM_005269051.2:c.3792_3801=	XM_005269051.2:c.3799_3801del	XM_005269051.2:c.3800_3801del	XM_005269051.2:c.*3801del	XM_005269051.2:c.*3801dup	XM_005269051.2:c.3800_3801dup	XM_005269051.2:c.3799_3801dup	XM_005269051.2:c.3798_3801dup	XM_005269051.2:c.3797_3801dup	XM_005269051.2:c.3796_3801dup	XM_005269051.2:c.3795_3801dup	XM_005269051.2:c.3794_3801dup	XM_005269051.2:c.3793_3801dup	XM_005269051.2:c.3792_3801dup	XM_005269051.2:c.3801_3802insTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant 1	NM_002868.4:c.3792_3801=	NM_002868.4:c.3799_3801del	NM_002868.4:c.3800_3801del	NM_002868.4:c.*3801del	NM_002868.4:c.*3801dup	NM_002868.4:c.3800_3801dup	NM_002868.4:c.3799_3801dup	NM_002868.4:c.3798_3801dup	NM_002868.4:c.3797_3801dup	NM_002868.4:c.3796_3801dup	NM_002868.4:c.3795_3801dup	NM_002868.4:c.3794_3801dup	NM_002868.4:c.3793_3801dup	NM_002868.4:c.3792_3801dup	NM_002868.4:c.3801_3802insTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant 1	NM_002868.3:c.3792_3801=	NM_002868.3:c.3799_3801del	NM_002868.3:c.3800_3801del	NM_002868.3:c.*3801del	NM_002868.3:c.*3801dup	NM_002868.3:c.3800_3801dup	NM_002868.3:c.3799_3801dup	NM_002868.3:c.3798_3801dup	NM_002868.3:c.3797_3801dup	NM_002868.3:c.3796_3801dup	NM_002868.3:c.3795_3801dup	NM_002868.3:c.3794_3801dup	NM_002868.3:c.3793_3801dup	NM_002868.3:c.3792_3801dup	NM_002868.3:c.3801_3802insTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant 2	NM_001252036.2:c.3792_3801=	NM_001252036.2:c.3799_3801del	NM_001252036.2:c.3800_3801del	NM_001252036.2:c.*3801del	NM_001252036.2:c.*3801dup	NM_001252036.2:c.3800_3801dup	NM_001252036.2:c.3799_3801dup	NM_001252036.2:c.3798_3801dup	NM_001252036.2:c.3797_3801dup	NM_001252036.2:c.3796_3801dup	NM_001252036.2:c.3795_3801dup	NM_001252036.2:c.3794_3801dup	NM_001252036.2:c.3793_3801dup	NM_001252036.2:c.3792_3801dup	NM_001252036.2:c.3801_3802insTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant 2	NM_001252036.1:c.3792_3801=	NM_001252036.1:c.3799_3801del	NM_001252036.1:c.3800_3801del	NM_001252036.1:c.*3801del	NM_001252036.1:c.*3801dup	NM_001252036.1:c.3800_3801dup	NM_001252036.1:c.3799_3801dup	NM_001252036.1:c.3798_3801dup	NM_001252036.1:c.3797_3801dup	NM_001252036.1:c.3796_3801dup	NM_001252036.1:c.3795_3801dup	NM_001252036.1:c.3794_3801dup	NM_001252036.1:c.3793_3801dup	NM_001252036.1:c.3792_3801dup	NM_001252036.1:c.3801_3802insTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant 3	NM_001252037.2:c.3792_3801=	NM_001252037.2:c.3799_3801del	NM_001252037.2:c.3800_3801del	NM_001252037.2:c.*3801del	NM_001252037.2:c.*3801dup	NM_001252037.2:c.3800_3801dup	NM_001252037.2:c.3799_3801dup	NM_001252037.2:c.3798_3801dup	NM_001252037.2:c.3797_3801dup	NM_001252037.2:c.3796_3801dup	NM_001252037.2:c.3795_3801dup	NM_001252037.2:c.3794_3801dup	NM_001252037.2:c.3793_3801dup	NM_001252037.2:c.3792_3801dup	NM_001252037.2:c.3801_3802insTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant 3	NM_001252037.1:c.3792_3801=	NM_001252037.1:c.3799_3801del	NM_001252037.1:c.3800_3801del	NM_001252037.1:c.*3801del	NM_001252037.1:c.*3801dup	NM_001252037.1:c.3800_3801dup	NM_001252037.1:c.3799_3801dup	NM_001252037.1:c.3798_3801dup	NM_001252037.1:c.3797_3801dup	NM_001252037.1:c.3796_3801dup	NM_001252037.1:c.3795_3801dup	NM_001252037.1:c.3794_3801dup	NM_001252037.1:c.3793_3801dup	NM_001252037.1:c.3792_3801dup	NM_001252037.1:c.3801_3802insTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant X1	XM_047429281.1:c.3792_3801=	XM_047429281.1:c.3799_3801del	XM_047429281.1:c.3800_3801del	XM_047429281.1:c.*3801del	XM_047429281.1:c.*3801dup	XM_047429281.1:c.3800_3801dup	XM_047429281.1:c.3799_3801dup	XM_047429281.1:c.3798_3801dup	XM_047429281.1:c.3797_3801dup	XM_047429281.1:c.3796_3801dup	XM_047429281.1:c.3795_3801dup	XM_047429281.1:c.3794_3801dup	XM_047429281.1:c.3793_3801dup	XM_047429281.1:c.3792_3801dup	XM_047429281.1:c.3801_3802insTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

34 SubSNP, 34 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77898591	Dec 07, 2007 (129)
2	ACPOP	ss3739049077	Jul 13, 2019 (153)
3	ACPOP	ss3739049078	Jul 13, 2019 (153)
4	GNOMAD	ss4252345686	Apr 26, 2021 (155)
5	GNOMAD	ss4252345838	Apr 26, 2021 (155)
6	GNOMAD	ss4252345839	Apr 26, 2021 (155)
7	GNOMAD	ss4252345842	Apr 26, 2021 (155)
8	GNOMAD	ss4252345843	Apr 26, 2021 (155)
9	GNOMAD	ss4252345844	Apr 26, 2021 (155)
10	GNOMAD	ss4252345845	Apr 26, 2021 (155)
11	GNOMAD	ss4252345846	Apr 26, 2021 (155)
12	GNOMAD	ss4252345847	Apr 26, 2021 (155)
13	GNOMAD	ss4252345848	Apr 26, 2021 (155)
14	GNOMAD	ss4252345849	Apr 26, 2021 (155)
15	GNOMAD	ss4252345850	Apr 26, 2021 (155)
16	GNOMAD	ss4252345851	Apr 26, 2021 (155)
17	GNOMAD	ss4252345852	Apr 26, 2021 (155)
18	GNOMAD	ss4252345853	Apr 26, 2021 (155)
19	GNOMAD	ss4252345854	Apr 26, 2021 (155)
20	GNOMAD	ss4252345855	Apr 26, 2021 (155)
21	GNOMAD	ss4252345856	Apr 26, 2021 (155)
22	GNOMAD	ss4252345857	Apr 26, 2021 (155)
23	GNOMAD	ss4252345858	Apr 26, 2021 (155)
24	GNOMAD	ss4252345859	Apr 26, 2021 (155)
25	GNOMAD	ss4252345860	Apr 26, 2021 (155)
26	GNOMAD	ss4252345861	Apr 26, 2021 (155)
27	GNOMAD	ss4252345862	Apr 26, 2021 (155)
28	GNOMAD	ss4252345863	Apr 26, 2021 (155)
29	GNOMAD	ss4252345864	Apr 26, 2021 (155)
30	GNOMAD	ss4252345865	Apr 26, 2021 (155)
31	GNOMAD	ss4252345866	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5756302412	Oct 16, 2022 (156)
33	TOMMO_GENOMICS	ss5756302415	Oct 16, 2022 (156)
34	TOMMO_GENOMICS	ss5756302416	Oct 16, 2022 (156)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 408246943 (NC_000012.12:55996003::T 236/88188) Row 408247095 (NC_000012.12:55996003::TT 519/88184) Row 408247096 (NC_000012.12:55996003::TTT 12/88188)...	-	Apr 26, 2021 (155)
63	Northern Sweden Submission ignored due to conflicting rows: Row 12333942 (NC_000012.11:56389787::TTTTTT 78/588) Row 12333943 (NC_000012.11:56389787::TTTT 9/588)	-	Jul 13, 2019 (153)
64	Northern Sweden Submission ignored due to conflicting rows: Row 12333942 (NC_000012.11:56389787::TTTTTT 78/588) Row 12333943 (NC_000012.11:56389787::TTTT 9/588)	-	Jul 13, 2019 (153)
65	14KJPN Submission ignored due to conflicting rows: Row 90139516 (NC_000012.12:55996003::TTTT 1656/28072) Row 90139519 (NC_000012.12:55996003::TTTTTT 1887/28072) Row 90139520 (NC_000012.12:55996003::TTTTT 299/28072)	-	Oct 16, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 90139516 (NC_000012.12:55996003::TTTT 1656/28072) Row 90139519 (NC_000012.12:55996003::TTTTTT 1887/28072) Row 90139520 (NC_000012.12:55996003::TTTTT 299/28072)	-	Oct 16, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 90139516 (NC_000012.12:55996003::TTTT 1656/28072) Row 90139519 (NC_000012.12:55996003::TTTTTT 1887/28072) Row 90139520 (NC_000012.12:55996003::TTTTT 299/28072)	-	Oct 16, 2022 (156)
68	ALFA	NC_000012.12 - 55996004	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:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTT	(self)
ss4252345866	NC_000012.12:55996003:TT:	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTT	(self)
ss4252345865	NC_000012.12:55996003:T:	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTT	(self)
ss4252345686	NC_000012.12:55996003::T	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTT	(self)
ss4252345838	NC_000012.12:55996003::TT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4252345839	NC_000012.12:55996003::TTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3739049078	NC_000012.11:56389787::TTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4252345842, ss5756302412	NC_000012.12:55996003::TTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4252345843, ss5756302416	NC_000012.12:55996003::TTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3739049077	NC_000012.11:56389787::TTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4252345844, ss5756302415	NC_000012.12:55996003::TTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4252345845	NC_000012.12:55996003::TTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss77898591	NT_029419.12:18533103::TTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4252345846	NC_000012.12:55996003::TTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4252345847	NC_000012.12:55996003::TTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4252345848	NC_000012.12:55996003::TTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4252345849	NC_000012.12:55996003::TTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4252345850	NC_000012.12:55996003::TTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252345851	NC_000012.12:55996003::TTTTTTTTTTT… NC_000012.12:55996003::TTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252345852	NC_000012.12:55996003::TTTTTTTTTTT… NC_000012.12:55996003::TTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252345853	NC_000012.12:55996003::TTTTTTTTTTT… NC_000012.12:55996003::TTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252345854	NC_000012.12:55996003::TTTTTTTTTTT… NC_000012.12:55996003::TTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252345855	NC_000012.12:55996003::TTTTTTTTTTT… NC_000012.12:55996003::TTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252345856	NC_000012.12:55996003::TTTTTTTTTTT… NC_000012.12:55996003::TTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252345857	NC_000012.12:55996003::TTTTTTTTTTT… NC_000012.12:55996003::TTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252345858	NC_000012.12:55996003::TTTTTTTTTTT… NC_000012.12:55996003::TTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12213213398	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252345859	NC_000012.12:55996003::TTTTTTTTTTT… NC_000012.12:55996003::TTTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252345860	NC_000012.12:55996003::TTTTTTTTTTT… NC_000012.12:55996003::TTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252345861	NC_000012.12:55996003::TTTTTTTTTTT… NC_000012.12:55996003::TTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252345862	NC_000012.12:55996003::TTTTTTTTTTT… NC_000012.12:55996003::TTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252345863	NC_000012.12:55996003::TTTTTTTTTTT… NC_000012.12:55996003::TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4252345864	NC_000012.12:55996003::TTTTTTTTTTT… NC_000012.12:55996003::TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3171714233	NC_000012.12:55996003:TTT:	NC_000012.12:55996003:TTTTTTTTTT:T… NC_000012.12:55996003:TTTTTTTTTT:TTTTTTT

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

No publications for rs56291639

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	(T)₁₀=	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀	ins(T)₁₁	ins(T)₁₂	ins(T)₁₃	ins(T)₁₄	ins(T)₁₅	ins(T)₁₆	ins(T)₁₇	ins(T)₁₈	ins(T)₁₉	ins(T)₂₀	ins(T)₂₁	ins(T)₂₂	ins(T)₂₃	ins(T)₂₄	ins(T)₂₇	ins(T)₂₈
GRCh38.p14 chr 12	NC_000012.12:g.55996004_55996013=	NC_000012.12:g.55996011_55996013del	NC_000012.12:g.55996012_55996013del	NC_000012.12:g.55996013del	NC_000012.12:g.55996013dup	NC_000012.12:g.55996012_55996013dup	NC_000012.12:g.55996011_55996013dup	NC_000012.12:g.55996010_55996013dup	NC_000012.12:g.55996009_55996013dup	NC_000012.12:g.55996008_55996013dup	NC_000012.12:g.55996007_55996013dup	NC_000012.12:g.55996006_55996013dup	NC_000012.12:g.55996005_55996013dup	NC_000012.12:g.55996004_55996013dup	NC_000012.12:g.55996013_55996014insTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.56389788_56389797=	NC_000012.11:g.56389795_56389797del	NC_000012.11:g.56389796_56389797del	NC_000012.11:g.56389797del	NC_000012.11:g.56389797dup	NC_000012.11:g.56389796_56389797dup	NC_000012.11:g.56389795_56389797dup	NC_000012.11:g.56389794_56389797dup	NC_000012.11:g.56389793_56389797dup	NC_000012.11:g.56389792_56389797dup	NC_000012.11:g.56389791_56389797dup	NC_000012.11:g.56389790_56389797dup	NC_000012.11:g.56389789_56389797dup	NC_000012.11:g.56389788_56389797dup	NC_000012.11:g.56389797_56389798insTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SUOX RefSeqGene	NG_008136.1:g.3746_3755=	NG_008136.1:g.3753_3755del	NG_008136.1:g.3754_3755del	NG_008136.1:g.3755del	NG_008136.1:g.3755dup	NG_008136.1:g.3754_3755dup	NG_008136.1:g.3753_3755dup	NG_008136.1:g.3752_3755dup	NG_008136.1:g.3751_3755dup	NG_008136.1:g.3750_3755dup	NG_008136.1:g.3749_3755dup	NG_008136.1:g.3748_3755dup	NG_008136.1:g.3747_3755dup	NG_008136.1:g.3746_3755dup	NG_008136.1:g.3755_3756insTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant X2	XM_005269051.4:c.3792_3801=	XM_005269051.4:c.3799_3801del	XM_005269051.4:c.3800_3801del	XM_005269051.4:c.*3801del	XM_005269051.4:c.*3801dup	XM_005269051.4:c.3800_3801dup	XM_005269051.4:c.3799_3801dup	XM_005269051.4:c.3798_3801dup	XM_005269051.4:c.3797_3801dup	XM_005269051.4:c.3796_3801dup	XM_005269051.4:c.3795_3801dup	XM_005269051.4:c.3794_3801dup	XM_005269051.4:c.3793_3801dup	XM_005269051.4:c.3792_3801dup	XM_005269051.4:c.3801_3802insTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant X1	XM_005269051.2:c.3792_3801=	XM_005269051.2:c.3799_3801del	XM_005269051.2:c.3800_3801del	XM_005269051.2:c.*3801del	XM_005269051.2:c.*3801dup	XM_005269051.2:c.3800_3801dup	XM_005269051.2:c.3799_3801dup	XM_005269051.2:c.3798_3801dup	XM_005269051.2:c.3797_3801dup	XM_005269051.2:c.3796_3801dup	XM_005269051.2:c.3795_3801dup	XM_005269051.2:c.3794_3801dup	XM_005269051.2:c.3793_3801dup	XM_005269051.2:c.3792_3801dup	XM_005269051.2:c.3801_3802insTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005269051.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant 1	NM_002868.4:c.3792_3801=	NM_002868.4:c.3799_3801del	NM_002868.4:c.3800_3801del	NM_002868.4:c.*3801del	NM_002868.4:c.*3801dup	NM_002868.4:c.3800_3801dup	NM_002868.4:c.3799_3801dup	NM_002868.4:c.3798_3801dup	NM_002868.4:c.3797_3801dup	NM_002868.4:c.3796_3801dup	NM_002868.4:c.3795_3801dup	NM_002868.4:c.3794_3801dup	NM_002868.4:c.3793_3801dup	NM_002868.4:c.3792_3801dup	NM_002868.4:c.3801_3802insTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_002868.4:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant 1	NM_002868.3:c.3792_3801=	NM_002868.3:c.3799_3801del	NM_002868.3:c.3800_3801del	NM_002868.3:c.*3801del	NM_002868.3:c.*3801dup	NM_002868.3:c.3800_3801dup	NM_002868.3:c.3799_3801dup	NM_002868.3:c.3798_3801dup	NM_002868.3:c.3797_3801dup	NM_002868.3:c.3796_3801dup	NM_002868.3:c.3795_3801dup	NM_002868.3:c.3794_3801dup	NM_002868.3:c.3793_3801dup	NM_002868.3:c.3792_3801dup	NM_002868.3:c.3801_3802insTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_002868.3:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant 2	NM_001252036.2:c.3792_3801=	NM_001252036.2:c.3799_3801del	NM_001252036.2:c.3800_3801del	NM_001252036.2:c.*3801del	NM_001252036.2:c.*3801dup	NM_001252036.2:c.3800_3801dup	NM_001252036.2:c.3799_3801dup	NM_001252036.2:c.3798_3801dup	NM_001252036.2:c.3797_3801dup	NM_001252036.2:c.3796_3801dup	NM_001252036.2:c.3795_3801dup	NM_001252036.2:c.3794_3801dup	NM_001252036.2:c.3793_3801dup	NM_001252036.2:c.3792_3801dup	NM_001252036.2:c.3801_3802insTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant 2	NM_001252036.1:c.3792_3801=	NM_001252036.1:c.3799_3801del	NM_001252036.1:c.3800_3801del	NM_001252036.1:c.*3801del	NM_001252036.1:c.*3801dup	NM_001252036.1:c.3800_3801dup	NM_001252036.1:c.3799_3801dup	NM_001252036.1:c.3798_3801dup	NM_001252036.1:c.3797_3801dup	NM_001252036.1:c.3796_3801dup	NM_001252036.1:c.3795_3801dup	NM_001252036.1:c.3794_3801dup	NM_001252036.1:c.3793_3801dup	NM_001252036.1:c.3792_3801dup	NM_001252036.1:c.3801_3802insTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252036.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant 3	NM_001252037.2:c.3792_3801=	NM_001252037.2:c.3799_3801del	NM_001252037.2:c.3800_3801del	NM_001252037.2:c.*3801del	NM_001252037.2:c.*3801dup	NM_001252037.2:c.3800_3801dup	NM_001252037.2:c.3799_3801dup	NM_001252037.2:c.3798_3801dup	NM_001252037.2:c.3797_3801dup	NM_001252037.2:c.3796_3801dup	NM_001252037.2:c.3795_3801dup	NM_001252037.2:c.3794_3801dup	NM_001252037.2:c.3793_3801dup	NM_001252037.2:c.3792_3801dup	NM_001252037.2:c.3801_3802insTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.2:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant 3	NM_001252037.1:c.3792_3801=	NM_001252037.1:c.3799_3801del	NM_001252037.1:c.3800_3801del	NM_001252037.1:c.*3801del	NM_001252037.1:c.*3801dup	NM_001252037.1:c.3800_3801dup	NM_001252037.1:c.3799_3801dup	NM_001252037.1:c.3798_3801dup	NM_001252037.1:c.3797_3801dup	NM_001252037.1:c.3796_3801dup	NM_001252037.1:c.3795_3801dup	NM_001252037.1:c.3794_3801dup	NM_001252037.1:c.3793_3801dup	NM_001252037.1:c.3792_3801dup	NM_001252037.1:c.3801_3802insTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001252037.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RAB5B transcript variant X1	XM_047429281.1:c.3792_3801=	XM_047429281.1:c.3799_3801del	XM_047429281.1:c.3800_3801del	XM_047429281.1:c.*3801del	XM_047429281.1:c.*3801dup	XM_047429281.1:c.3800_3801dup	XM_047429281.1:c.3799_3801dup	XM_047429281.1:c.3798_3801dup	XM_047429281.1:c.3797_3801dup	XM_047429281.1:c.3796_3801dup	XM_047429281.1:c.3795_3801dup	XM_047429281.1:c.3794_3801dup	XM_047429281.1:c.3793_3801dup	XM_047429281.1:c.3792_3801dup	XM_047429281.1:c.3801_3802insTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047429281.1:c.3801_3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs56291639