Name: rs1491248703
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.

rs1491248703

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:17686609 (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: insTGCG / insTGCGCG / insT(GC)₃G /…
insTGCG / insTGCGCG / insT(GC)₃G / insT(GC)₄G / insT(GC)₅G / insT(GC)₆G / ins(TGCG)₂CG / insTGTGA(GC)₃G / insTGTGCG / insTGTGCGCG / insTGTG(CG)₃ / insTGTG(CG)₄ / insTGTG(CG)₅ / ins(TG)₃CG / ins(TG)₃CGCG / ins(TG)₃(CG)₃ / ins(TG)₃(CG)₄ / ins(TG)₃(CG)₅ / ins(TG)₄CG / ins(TG)₄CGCG / ins(TG)₄(CG)₃ / ins(TG)₄(CG)₄ / ins(TG)₄(CG)₅ / ins(TG)₅CG / ins(TG)₅CGCG / ins(TG)₅(CG)₃ / ins(TG)₅(CG)₄ / ins(TG)₅(CG)₅ / ins(TG)₆CG / ins(TG)₆(CG)₄ / ins(TG)₇CG / ins(TG)₇CGCG
Variation Type: Indel Insertion and Deletion
Frequency: insTGTG(CG)₃=0.00227 (36/15874, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RAI1 : 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	Alt HMOZ	HTRZ	HWEP
Total	Global	15874	G=0.99666	GTGCG=0.00000, GTGCGCG=0.00000, GTGCGCGCG=0.00069, GTGTGCGCGCG=0.00227, GTGCGCGCGCG=0.00019, GTGTGCGCGCGCG=0.00013, GTGTGTGTGCG=0.00006, GTGCGCGCGCGCG=0.00000, GTGCGCGCGCGCGCG=0.00000, GTGTGCG=0.00000, GTGTGCGCG=0.00000, GTGTGCGCGCGCGCG=0.00000, GTGTGTGCG=0.00000, GTGTGTGCGCG=0.00000, GTGTGTGCGCGCG=0.00000, GTGTGTGCGCGCGCG=0.00000, GTGTGTGCGCGCGCGCG=0.00000, GTGTGTGTGCGCG=0.00000, GTGTGTGTGCGCGCG=0.00000, GTGTGTGTGCGCGCGCG=0.00000, GTGTGTGTGCGCGCGCGCG=0.00000, GTGTGTGTGTGCG=0.00000, GTGTGTGTGTGCGCG=0.00000, GTGTGTGTGTGCGCGCGCG=0.00000, GTGTGTGTGTGCGCGCGCGCG=0.00000, GTGTGTGTGTGTGCG=0.00000, GTGTGTGTGTGTGTGCG=0.00000	0.99558	0.000126	0.004293	13
European	Sub	11834	G=0.99552	GTGCG=0.00000, GTGCGCG=0.00000, GTGCGCGCG=0.00093, GTGTGCGCGCG=0.00304, GTGCGCGCGCG=0.00025, GTGTGCGCGCGCG=0.00017, GTGTGTGTGCG=0.00008, GTGCGCGCGCGCG=0.00000, GTGCGCGCGCGCGCG=0.00000, GTGTGCG=0.00000, GTGTGCGCG=0.00000, GTGTGCGCGCGCGCG=0.00000, GTGTGTGCG=0.00000, GTGTGTGCGCG=0.00000, GTGTGTGCGCGCG=0.00000, GTGTGTGCGCGCGCG=0.00000, GTGTGTGCGCGCGCGCG=0.00000, GTGTGTGTGCGCG=0.00000, GTGTGTGTGCGCGCG=0.00000, GTGTGTGTGCGCGCGCG=0.00000, GTGTGTGTGCGCGCGCGCG=0.00000, GTGTGTGTGTGCG=0.00000, GTGTGTGTGTGCGCG=0.00000, GTGTGTGTGTGCGCGCGCG=0.00000, GTGTGTGTGTGCGCGCGCGCG=0.00000, GTGTGTGTGTGTGCG=0.00000, GTGTGTGTGTGTGTGCG=0.00000	0.994067	0.00017	0.005764	9
African	Sub	2734	G=1.0000	GTGCG=0.0000, GTGCGCG=0.0000, GTGCGCGCG=0.0000, GTGTGCGCGCG=0.0000, GTGCGCGCGCG=0.0000, GTGTGCGCGCGCG=0.0000, GTGTGTGTGCG=0.0000, GTGCGCGCGCGCG=0.0000, GTGCGCGCGCGCGCG=0.0000, GTGTGCG=0.0000, GTGTGCGCG=0.0000, GTGTGCGCGCGCGCG=0.0000, GTGTGTGCG=0.0000, GTGTGTGCGCG=0.0000, GTGTGTGCGCGCG=0.0000, GTGTGTGCGCGCGCG=0.0000, GTGTGTGCGCGCGCGCG=0.0000, GTGTGTGTGCGCG=0.0000, GTGTGTGTGCGCGCG=0.0000, GTGTGTGTGCGCGCGCG=0.0000, GTGTGTGTGCGCGCGCGCG=0.0000, GTGTGTGTGTGCG=0.0000, GTGTGTGTGTGCGCG=0.0000, GTGTGTGTGTGCGCGCGCG=0.0000, GTGTGTGTGTGCGCGCGCGCG=0.0000, GTGTGTGTGTGTGCG=0.0000, GTGTGTGTGTGTGTGCG=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	106	G=1.000	GTGCG=0.000, GTGCGCG=0.000, GTGCGCGCG=0.000, GTGTGCGCGCG=0.000, GTGCGCGCGCG=0.000, GTGTGCGCGCGCG=0.000, GTGTGTGTGCG=0.000, GTGCGCGCGCGCG=0.000, GTGCGCGCGCGCGCG=0.000, GTGTGCG=0.000, GTGTGCGCG=0.000, GTGTGCGCGCGCGCG=0.000, GTGTGTGCG=0.000, GTGTGTGCGCG=0.000, GTGTGTGCGCGCG=0.000, GTGTGTGCGCGCGCG=0.000, GTGTGTGCGCGCGCGCG=0.000, GTGTGTGTGCGCG=0.000, GTGTGTGTGCGCGCG=0.000, GTGTGTGTGCGCGCGCG=0.000, GTGTGTGTGCGCGCGCGCG=0.000, GTGTGTGTGTGCG=0.000, GTGTGTGTGTGCGCG=0.000, GTGTGTGTGTGCGCGCGCG=0.000, GTGTGTGTGTGCGCGCGCGCG=0.000, GTGTGTGTGTGTGCG=0.000, GTGTGTGTGTGTGTGCG=0.000	1.0	0.0	0.0	N/A
African American	Sub	2628	G=1.0000	GTGCG=0.0000, GTGCGCG=0.0000, GTGCGCGCG=0.0000, GTGTGCGCGCG=0.0000, GTGCGCGCGCG=0.0000, GTGTGCGCGCGCG=0.0000, GTGTGTGTGCG=0.0000, GTGCGCGCGCGCG=0.0000, GTGCGCGCGCGCGCG=0.0000, GTGTGCG=0.0000, GTGTGCGCG=0.0000, GTGTGCGCGCGCGCG=0.0000, GTGTGTGCG=0.0000, GTGTGTGCGCG=0.0000, GTGTGTGCGCGCG=0.0000, GTGTGTGCGCGCGCG=0.0000, GTGTGTGCGCGCGCGCG=0.0000, GTGTGTGTGCGCG=0.0000, GTGTGTGTGCGCGCG=0.0000, GTGTGTGTGCGCGCGCG=0.0000, GTGTGTGTGCGCGCGCGCG=0.0000, GTGTGTGTGTGCG=0.0000, GTGTGTGTGTGCGCG=0.0000, GTGTGTGTGTGCGCGCGCG=0.0000, GTGTGTGTGTGCGCGCGCGCG=0.0000, GTGTGTGTGTGTGCG=0.0000, GTGTGTGTGTGTGTGCG=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	100	G=1.00	GTGCG=0.00, GTGCGCG=0.00, GTGCGCGCG=0.00, GTGTGCGCGCG=0.00, GTGCGCGCGCG=0.00, GTGTGCGCGCGCG=0.00, GTGTGTGTGCG=0.00, GTGCGCGCGCGCG=0.00, GTGCGCGCGCGCGCG=0.00, GTGTGCG=0.00, GTGTGCGCG=0.00, GTGTGCGCGCGCGCG=0.00, GTGTGTGCG=0.00, GTGTGTGCGCG=0.00, GTGTGTGCGCGCG=0.00, GTGTGTGCGCGCGCG=0.00, GTGTGTGCGCGCGCGCG=0.00, GTGTGTGTGCGCG=0.00, GTGTGTGTGCGCGCG=0.00, GTGTGTGTGCGCGCGCG=0.00, GTGTGTGTGCGCGCGCGCG=0.00, GTGTGTGTGTGCG=0.00, GTGTGTGTGTGCGCG=0.00, GTGTGTGTGTGCGCGCGCG=0.00, GTGTGTGTGTGCGCGCGCGCG=0.00, GTGTGTGTGTGTGCG=0.00, GTGTGTGTGTGTGTGCG=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	80	G=1.00	GTGCG=0.00, GTGCGCG=0.00, GTGCGCGCG=0.00, GTGTGCGCGCG=0.00, GTGCGCGCGCG=0.00, GTGTGCGCGCGCG=0.00, GTGTGTGTGCG=0.00, GTGCGCGCGCGCG=0.00, GTGCGCGCGCGCGCG=0.00, GTGTGCG=0.00, GTGTGCGCG=0.00, GTGTGCGCGCGCGCG=0.00, GTGTGTGCG=0.00, GTGTGTGCGCG=0.00, GTGTGTGCGCGCG=0.00, GTGTGTGCGCGCGCG=0.00, GTGTGTGCGCGCGCGCG=0.00, GTGTGTGTGCGCG=0.00, GTGTGTGTGCGCGCG=0.00, GTGTGTGTGCGCGCGCG=0.00, GTGTGTGTGCGCGCGCGCG=0.00, GTGTGTGTGTGCG=0.00, GTGTGTGTGTGCGCG=0.00, GTGTGTGTGTGCGCGCGCG=0.00, GTGTGTGTGTGCGCGCGCGCG=0.00, GTGTGTGTGTGTGCG=0.00, GTGTGTGTGTGTGTGCG=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	G=1.00	GTGCG=0.00, GTGCGCG=0.00, GTGCGCGCG=0.00, GTGTGCGCGCG=0.00, GTGCGCGCGCG=0.00, GTGTGCGCGCGCG=0.00, GTGTGTGTGCG=0.00, GTGCGCGCGCGCG=0.00, GTGCGCGCGCGCGCG=0.00, GTGTGCG=0.00, GTGTGCGCG=0.00, GTGTGCGCGCGCGCG=0.00, GTGTGTGCG=0.00, GTGTGTGCGCG=0.00, GTGTGTGCGCGCG=0.00, GTGTGTGCGCGCGCG=0.00, GTGTGTGCGCGCGCGCG=0.00, GTGTGTGTGCGCG=0.00, GTGTGTGTGCGCGCG=0.00, GTGTGTGTGCGCGCGCG=0.00, GTGTGTGTGCGCGCGCGCG=0.00, GTGTGTGTGTGCG=0.00, GTGTGTGTGTGCGCG=0.00, GTGTGTGTGTGCGCGCGCG=0.00, GTGTGTGTGTGCGCGCGCGCG=0.00, GTGTGTGTGTGTGCG=0.00, GTGTGTGTGTGTGTGCG=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	140	G=1.000	GTGCG=0.000, GTGCGCG=0.000, GTGCGCGCG=0.000, GTGTGCGCGCG=0.000, GTGCGCGCGCG=0.000, GTGTGCGCGCGCG=0.000, GTGTGTGTGCG=0.000, GTGCGCGCGCGCG=0.000, GTGCGCGCGCGCGCG=0.000, GTGTGCG=0.000, GTGTGCGCG=0.000, GTGTGCGCGCGCGCG=0.000, GTGTGTGCG=0.000, GTGTGTGCGCG=0.000, GTGTGTGCGCGCG=0.000, GTGTGTGCGCGCGCG=0.000, GTGTGTGCGCGCGCGCG=0.000, GTGTGTGTGCGCG=0.000, GTGTGTGTGCGCGCG=0.000, GTGTGTGTGCGCGCGCG=0.000, GTGTGTGTGCGCGCGCGCG=0.000, GTGTGTGTGTGCG=0.000, GTGTGTGTGTGCGCG=0.000, GTGTGTGTGTGCGCGCGCG=0.000, GTGTGTGTGTGCGCGCGCGCG=0.000, GTGTGTGTGTGTGCG=0.000, GTGTGTGTGTGTGTGCG=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	522	G=1.000	GTGCG=0.000, GTGCGCG=0.000, GTGCGCGCG=0.000, GTGTGCGCGCG=0.000, GTGCGCGCGCG=0.000, GTGTGCGCGCGCG=0.000, GTGTGTGTGCG=0.000, GTGCGCGCGCGCG=0.000, GTGCGCGCGCGCGCG=0.000, GTGTGCG=0.000, GTGTGCGCG=0.000, GTGTGCGCGCGCGCG=0.000, GTGTGTGCG=0.000, GTGTGTGCGCG=0.000, GTGTGTGCGCGCG=0.000, GTGTGTGCGCGCGCG=0.000, GTGTGTGCGCGCGCGCG=0.000, GTGTGTGTGCGCG=0.000, GTGTGTGTGCGCGCG=0.000, GTGTGTGTGCGCGCGCG=0.000, GTGTGTGTGCGCGCGCGCG=0.000, GTGTGTGTGTGCG=0.000, GTGTGTGTGTGCGCG=0.000, GTGTGTGTGTGCGCGCGCG=0.000, GTGTGTGTGTGCGCGCGCGCG=0.000, GTGTGTGTGTGTGCG=0.000, GTGTGTGTGTGTGTGCG=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	84	G=1.00	GTGCG=0.00, GTGCGCG=0.00, GTGCGCGCG=0.00, GTGTGCGCGCG=0.00, GTGCGCGCGCG=0.00, GTGTGCGCGCGCG=0.00, GTGTGTGTGCG=0.00, GTGCGCGCGCGCG=0.00, GTGCGCGCGCGCGCG=0.00, GTGTGCG=0.00, GTGTGCGCG=0.00, GTGTGCGCGCGCGCG=0.00, GTGTGTGCG=0.00, GTGTGTGCGCG=0.00, GTGTGTGCGCGCG=0.00, GTGTGTGCGCGCGCG=0.00, GTGTGTGCGCGCGCGCG=0.00, GTGTGTGTGCGCG=0.00, GTGTGTGTGCGCGCG=0.00, GTGTGTGTGCGCGCGCG=0.00, GTGTGTGTGCGCGCGCGCG=0.00, GTGTGTGTGTGCG=0.00, GTGTGTGTGTGCGCG=0.00, GTGTGTGTGTGCGCGCGCG=0.00, GTGTGTGTGTGCGCGCGCGCG=0.00, GTGTGTGTGTGTGCG=0.00, GTGTGTGTGTGTGTGCG=0.00	1.0	0.0	0.0	N/A
Other	Sub	460	G=1.000	GTGCG=0.000, GTGCGCG=0.000, GTGCGCGCG=0.000, GTGTGCGCGCG=0.000, GTGCGCGCGCG=0.000, GTGTGCGCGCGCG=0.000, GTGTGTGTGCG=0.000, GTGCGCGCGCGCG=0.000, GTGCGCGCGCGCGCG=0.000, GTGTGCG=0.000, GTGTGCGCG=0.000, GTGTGCGCGCGCGCG=0.000, GTGTGTGCG=0.000, GTGTGTGCGCG=0.000, GTGTGTGCGCGCG=0.000, GTGTGTGCGCGCGCG=0.000, GTGTGTGCGCGCGCGCG=0.000, GTGTGTGTGCGCG=0.000, GTGTGTGTGCGCGCG=0.000, GTGTGTGTGCGCGCGCG=0.000, GTGTGTGTGCGCGCGCGCG=0.000, GTGTGTGTGTGCG=0.000, GTGTGTGTGTGCGCG=0.000, GTGTGTGTGTGCGCGCGCG=0.000, GTGTGTGTGTGCGCGCGCGCG=0.000, GTGTGTGTGTGTGCG=0.000, GTGTGTGTGTGTGTGCG=0.000	1.0	0.0	0.0	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	15874	G=0.99666	insTGCG=0.00000, insTGCGCG=0.00000, insT(GC)₃G=0.00069, insT(GC)₄G=0.00019, insT(GC)₅G=0.00000, insT(GC)₆G=0.00000, insTGTGCG=0.00000, insTGTGCGCG=0.00000, insTGTG(CG)₃=0.00227, insTGTG(CG)₄=0.00013, insTGTG(CG)₅=0.00000, ins(TG)₃CG=0.00000, ins(TG)₃CGCG=0.00000, ins(TG)₃(CG)₃=0.00000, ins(TG)₃(CG)₄=0.00000, ins(TG)₃(CG)₅=0.00000, ins(TG)₄CG=0.00006, ins(TG)₄CGCG=0.00000, ins(TG)₄(CG)₃=0.00000, ins(TG)₄(CG)₄=0.00000, ins(TG)₄(CG)₅=0.00000, ins(TG)₅CG=0.00000, ins(TG)₅CGCG=0.00000, ins(TG)₅(CG)₄=0.00000, ins(TG)₅(CG)₅=0.00000, ins(TG)₆CG=0.00000, ins(TG)₇CG=0.00000
Allele Frequency Aggregator	European	Sub	11834	G=0.99552	insTGCG=0.00000, insTGCGCG=0.00000, insT(GC)₃G=0.00093, insT(GC)₄G=0.00025, insT(GC)₅G=0.00000, insT(GC)₆G=0.00000, insTGTGCG=0.00000, insTGTGCGCG=0.00000, insTGTG(CG)₃=0.00304, insTGTG(CG)₄=0.00017, insTGTG(CG)₅=0.00000, ins(TG)₃CG=0.00000, ins(TG)₃CGCG=0.00000, ins(TG)₃(CG)₃=0.00000, ins(TG)₃(CG)₄=0.00000, ins(TG)₃(CG)₅=0.00000, ins(TG)₄CG=0.00008, ins(TG)₄CGCG=0.00000, ins(TG)₄(CG)₃=0.00000, ins(TG)₄(CG)₄=0.00000, ins(TG)₄(CG)₅=0.00000, ins(TG)₅CG=0.00000, ins(TG)₅CGCG=0.00000, ins(TG)₅(CG)₄=0.00000, ins(TG)₅(CG)₅=0.00000, ins(TG)₆CG=0.00000, ins(TG)₇CG=0.00000
Allele Frequency Aggregator	African	Sub	2734	G=1.0000	insTGCG=0.0000, insTGCGCG=0.0000, insT(GC)₃G=0.0000, insT(GC)₄G=0.0000, insT(GC)₅G=0.0000, insT(GC)₆G=0.0000, insTGTGCG=0.0000, insTGTGCGCG=0.0000, insTGTG(CG)₃=0.0000, insTGTG(CG)₄=0.0000, insTGTG(CG)₅=0.0000, ins(TG)₃CG=0.0000, ins(TG)₃CGCG=0.0000, ins(TG)₃(CG)₃=0.0000, ins(TG)₃(CG)₄=0.0000, ins(TG)₃(CG)₅=0.0000, ins(TG)₄CG=0.0000, ins(TG)₄CGCG=0.0000, ins(TG)₄(CG)₃=0.0000, ins(TG)₄(CG)₄=0.0000, ins(TG)₄(CG)₅=0.0000, ins(TG)₅CG=0.0000, ins(TG)₅CGCG=0.0000, ins(TG)₅(CG)₄=0.0000, ins(TG)₅(CG)₅=0.0000, ins(TG)₆CG=0.0000, ins(TG)₇CG=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	522	G=1.000	insTGCG=0.000, insTGCGCG=0.000, insT(GC)₃G=0.000, insT(GC)₄G=0.000, insT(GC)₅G=0.000, insT(GC)₆G=0.000, insTGTGCG=0.000, insTGTGCGCG=0.000, insTGTG(CG)₃=0.000, insTGTG(CG)₄=0.000, insTGTG(CG)₅=0.000, ins(TG)₃CG=0.000, ins(TG)₃CGCG=0.000, ins(TG)₃(CG)₃=0.000, ins(TG)₃(CG)₄=0.000, ins(TG)₃(CG)₅=0.000, ins(TG)₄CG=0.000, ins(TG)₄CGCG=0.000, ins(TG)₄(CG)₃=0.000, ins(TG)₄(CG)₄=0.000, ins(TG)₄(CG)₅=0.000, ins(TG)₅CG=0.000, ins(TG)₅CGCG=0.000, ins(TG)₅(CG)₄=0.000, ins(TG)₅(CG)₅=0.000, ins(TG)₆CG=0.000, ins(TG)₇CG=0.000
Allele Frequency Aggregator	Other	Sub	460	G=1.000	insTGCG=0.000, insTGCGCG=0.000, insT(GC)₃G=0.000, insT(GC)₄G=0.000, insT(GC)₅G=0.000, insT(GC)₆G=0.000, insTGTGCG=0.000, insTGTGCGCG=0.000, insTGTG(CG)₃=0.000, insTGTG(CG)₄=0.000, insTGTG(CG)₅=0.000, ins(TG)₃CG=0.000, ins(TG)₃CGCG=0.000, ins(TG)₃(CG)₃=0.000, ins(TG)₃(CG)₄=0.000, ins(TG)₃(CG)₅=0.000, ins(TG)₄CG=0.000, ins(TG)₄CGCG=0.000, ins(TG)₄(CG)₃=0.000, ins(TG)₄(CG)₄=0.000, ins(TG)₄(CG)₅=0.000, ins(TG)₅CG=0.000, ins(TG)₅CGCG=0.000, ins(TG)₅(CG)₄=0.000, ins(TG)₅(CG)₅=0.000, ins(TG)₆CG=0.000, ins(TG)₇CG=0.000
Allele Frequency Aggregator	Latin American 1	Sub	140	G=1.000	insTGCG=0.000, insTGCGCG=0.000, insT(GC)₃G=0.000, insT(GC)₄G=0.000, insT(GC)₅G=0.000, insT(GC)₆G=0.000, insTGTGCG=0.000, insTGTGCGCG=0.000, insTGTG(CG)₃=0.000, insTGTG(CG)₄=0.000, insTGTG(CG)₅=0.000, ins(TG)₃CG=0.000, ins(TG)₃CGCG=0.000, ins(TG)₃(CG)₃=0.000, ins(TG)₃(CG)₄=0.000, ins(TG)₃(CG)₅=0.000, ins(TG)₄CG=0.000, ins(TG)₄CGCG=0.000, ins(TG)₄(CG)₃=0.000, ins(TG)₄(CG)₄=0.000, ins(TG)₄(CG)₅=0.000, ins(TG)₅CG=0.000, ins(TG)₅CGCG=0.000, ins(TG)₅(CG)₄=0.000, ins(TG)₅(CG)₅=0.000, ins(TG)₆CG=0.000, ins(TG)₇CG=0.000
Allele Frequency Aggregator	Asian	Sub	100	G=1.00	insTGCG=0.00, insTGCGCG=0.00, insT(GC)₃G=0.00, insT(GC)₄G=0.00, insT(GC)₅G=0.00, insT(GC)₆G=0.00, insTGTGCG=0.00, insTGTGCGCG=0.00, insTGTG(CG)₃=0.00, insTGTG(CG)₄=0.00, insTGTG(CG)₅=0.00, ins(TG)₃CG=0.00, ins(TG)₃CGCG=0.00, ins(TG)₃(CG)₃=0.00, ins(TG)₃(CG)₄=0.00, ins(TG)₃(CG)₅=0.00, ins(TG)₄CG=0.00, ins(TG)₄CGCG=0.00, ins(TG)₄(CG)₃=0.00, ins(TG)₄(CG)₄=0.00, ins(TG)₄(CG)₅=0.00, ins(TG)₅CG=0.00, ins(TG)₅CGCG=0.00, ins(TG)₅(CG)₄=0.00, ins(TG)₅(CG)₅=0.00, ins(TG)₆CG=0.00, ins(TG)₇CG=0.00
Allele Frequency Aggregator	South Asian	Sub	84	G=1.00	insTGCG=0.00, insTGCGCG=0.00, insT(GC)₃G=0.00, insT(GC)₄G=0.00, insT(GC)₅G=0.00, insT(GC)₆G=0.00, insTGTGCG=0.00, insTGTGCGCG=0.00, insTGTG(CG)₃=0.00, insTGTG(CG)₄=0.00, insTGTG(CG)₅=0.00, ins(TG)₃CG=0.00, ins(TG)₃CGCG=0.00, ins(TG)₃(CG)₃=0.00, ins(TG)₃(CG)₄=0.00, ins(TG)₃(CG)₅=0.00, ins(TG)₄CG=0.00, ins(TG)₄CGCG=0.00, ins(TG)₄(CG)₃=0.00, ins(TG)₄(CG)₄=0.00, ins(TG)₄(CG)₅=0.00, ins(TG)₅CG=0.00, ins(TG)₅CGCG=0.00, ins(TG)₅(CG)₄=0.00, ins(TG)₅(CG)₅=0.00, ins(TG)₆CG=0.00, ins(TG)₇CG=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 17	NC_000017.11:g.17686609_17686610insTGCG
GRCh38.p14 chr 17	NC_000017.11:g.17686609_17686610insTGCGCG
GRCh38.p14 chr 17	NC_000017.11:g.17686609_17686610insTGCGCGCG
GRCh38.p14 chr 17	NC_000017.11:g.17686609_17686610insTGCGCGCGCG
GRCh38.p14 chr 17	NC_000017.11:g.17686609_17686610insTGCGCGCGCGCG
GRCh38.p14 chr 17	NC_000017.11:g.17686609_17686610insTGCGCGCGCGCGCG
GRCh38.p14 chr 17	NC_000017.11:g.17686609GTGC[2]GCG[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[2]GAGCGCGCG[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[2]GCG[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[2]GC[2]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[2]GC[3]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[2]GC[4]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[2]GC[5]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[3]GCG[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[3]GC[2]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[3]GC[3]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[3]GC[4]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[3]GC[5]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[4]GCG[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[4]GC[2]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[4]GC[3]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[4]GC[4]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[4]GC[5]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[5]GCG[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[5]GC[2]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[5]GC[3]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[5]GC[4]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[5]GC[5]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[6]GCG[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[6]GC[4]G[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[7]GCG[1]
GRCh38.p14 chr 17	NC_000017.11:g.17686609GT[7]GC[2]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923_17589924insTGCG
GRCh37.p13 chr 17	NC_000017.10:g.17589923_17589924insTGCGCG
GRCh37.p13 chr 17	NC_000017.10:g.17589923_17589924insTGCGCGCG
GRCh37.p13 chr 17	NC_000017.10:g.17589923_17589924insTGCGCGCGCG
GRCh37.p13 chr 17	NC_000017.10:g.17589923_17589924insTGCGCGCGCGCG
GRCh37.p13 chr 17	NC_000017.10:g.17589923_17589924insTGCGCGCGCGCGCG
GRCh37.p13 chr 17	NC_000017.10:g.17589923GTGC[2]GCG[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[2]GAGCGCGCG[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[2]GCG[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[2]GC[2]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[2]GC[3]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[2]GC[4]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[2]GC[5]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[3]GCG[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[3]GC[2]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[3]GC[3]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[3]GC[4]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[3]GC[5]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[4]GCG[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[4]GC[2]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[4]GC[3]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[4]GC[4]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[4]GC[5]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[5]GCG[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[5]GC[2]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[5]GC[3]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[5]GC[4]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[5]GC[5]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[6]GCG[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[6]GC[4]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[7]GCG[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923GT[7]GC[2]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137_10138insTGCG
RAI1 RefSeqGene	NG_007101.2:g.10137_10138insTGCGCG
RAI1 RefSeqGene	NG_007101.2:g.10137_10138insTGCGCGCG
RAI1 RefSeqGene	NG_007101.2:g.10137_10138insTGCGCGCGCG
RAI1 RefSeqGene	NG_007101.2:g.10137_10138insTGCGCGCGCGCG
RAI1 RefSeqGene	NG_007101.2:g.10137_10138insTGCGCGCGCGCGCG
RAI1 RefSeqGene	NG_007101.2:g.10137GTGC[2]GCG[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[2]GAGCGCGCG[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[2]GCG[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[2]GC[2]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[2]GC[3]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[2]GC[4]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[2]GC[5]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[3]GCG[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[3]GC[2]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[3]GC[3]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[3]GC[4]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[3]GC[5]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[4]GCG[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[4]GC[2]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[4]GC[3]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[4]GC[4]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[4]GC[5]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[5]GCG[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[5]GC[2]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[5]GC[3]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[5]GC[4]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[5]GC[5]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[6]GCG[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[6]GC[4]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[7]GCG[1]
RAI1 RefSeqGene	NG_007101.2:g.10137GT[7]GC[2]G[1]

Gene: RAI1, retinoic acid induced 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RAI1 transcript	NM_030665.4:c.-149+4816_-… NM_030665.4:c.-149+4816_-149+4817insTGCG	N/A	Intron Variant
RAI1 transcript variant X2	XM_047435151.1:c.-149+421… XM_047435151.1:c.-149+421_-149+422insTGCG	N/A	Intron Variant
RAI1 transcript variant X3	XM_047435152.1:c.-149+290… XM_047435152.1:c.-149+2906_-149+2907insTGCG	N/A	Intron Variant
RAI1 transcript variant X4	XM_047435153.1:c.-17+4816… XM_047435153.1:c.-17+4816_-17+4817insTGCG	N/A	Intron Variant
RAI1 transcript variant X6	XM_017024027.2:c.	N/A	Genic Upstream Transcript Variant
RAI1 transcript variant X1	XM_017024028.3:c.	N/A	Genic Upstream Transcript Variant
RAI1 transcript variant X5	XM_047435149.1:c.	N/A	Genic Upstream Transcript Variant
RAI1 transcript variant X7	XM_047435150.1:c.	N/A	Genic 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	G=	insTGCG	insTGCGCG	insT(GC)₃G	insT(GC)₄G	insT(GC)₅G	insT(GC)₆G	ins(TGCG)₂CG	insTGTGA(GC)₃G	insTGTGCG	insTGTGCGCG	insTGTG(CG)₃	insTGTG(CG)₄	insTGTG(CG)₅	ins(TG)₃CG	ins(TG)₃CGCG	ins(TG)₃(CG)₃	ins(TG)₃(CG)₄	ins(TG)₃(CG)₅	ins(TG)₄CG	ins(TG)₄CGCG	ins(TG)₄(CG)₃	ins(TG)₄(CG)₄	ins(TG)₄(CG)₅	ins(TG)₅CG	ins(TG)₅CGCG	ins(TG)₅(CG)₃	ins(TG)₅(CG)₄	ins(TG)₅(CG)₅	ins(TG)₆CG	ins(TG)₆(CG)₄	ins(TG)₇CG	ins(TG)₇CGCG
GRCh38.p14 chr 17	NC_000017.11:g.17686609=	NC_000017.11:g.17686609_17686610insTGCG	NC_000017.11:g.17686609_17686610insTGCGCG	NC_000017.11:g.17686609_17686610insTGCGCGCG	NC_000017.11:g.17686609_17686610insTGCGCGCGCG	NC_000017.11:g.17686609_17686610insTGCGCGCGCGCG	NC_000017.11:g.17686609_17686610insTGCGCGCGCGCGCG	NC_000017.11:g.17686609GTGC[2]GCG[1]	NC_000017.11:g.17686609GT[2]GAGCGCGCG[1]	NC_000017.11:g.17686609GT[2]GCG[1]	NC_000017.11:g.17686609GT[2]GC[2]G[1]	NC_000017.11:g.17686609GT[2]GC[3]G[1]	NC_000017.11:g.17686609GT[2]GC[4]G[1]	NC_000017.11:g.17686609GT[2]GC[5]G[1]	NC_000017.11:g.17686609GT[3]GCG[1]	NC_000017.11:g.17686609GT[3]GC[2]G[1]	NC_000017.11:g.17686609GT[3]GC[3]G[1]	NC_000017.11:g.17686609GT[3]GC[4]G[1]	NC_000017.11:g.17686609GT[3]GC[5]G[1]	NC_000017.11:g.17686609GT[4]GCG[1]	NC_000017.11:g.17686609GT[4]GC[2]G[1]	NC_000017.11:g.17686609GT[4]GC[3]G[1]	NC_000017.11:g.17686609GT[4]GC[4]G[1]	NC_000017.11:g.17686609GT[4]GC[5]G[1]	NC_000017.11:g.17686609GT[5]GCG[1]	NC_000017.11:g.17686609GT[5]GC[2]G[1]	NC_000017.11:g.17686609GT[5]GC[3]G[1]	NC_000017.11:g.17686609GT[5]GC[4]G[1]	NC_000017.11:g.17686609GT[5]GC[5]G[1]	NC_000017.11:g.17686609GT[6]GCG[1]	NC_000017.11:g.17686609GT[6]GC[4]G[1]	NC_000017.11:g.17686609GT[7]GCG[1]	NC_000017.11:g.17686609GT[7]GC[2]G[1]
GRCh37.p13 chr 17	NC_000017.10:g.17589923=	NC_000017.10:g.17589923_17589924insTGCG	NC_000017.10:g.17589923_17589924insTGCGCG	NC_000017.10:g.17589923_17589924insTGCGCGCG	NC_000017.10:g.17589923_17589924insTGCGCGCGCG	NC_000017.10:g.17589923_17589924insTGCGCGCGCGCG	NC_000017.10:g.17589923_17589924insTGCGCGCGCGCGCG	NC_000017.10:g.17589923GTGC[2]GCG[1]	NC_000017.10:g.17589923GT[2]GAGCGCGCG[1]	NC_000017.10:g.17589923GT[2]GCG[1]	NC_000017.10:g.17589923GT[2]GC[2]G[1]	NC_000017.10:g.17589923GT[2]GC[3]G[1]	NC_000017.10:g.17589923GT[2]GC[4]G[1]	NC_000017.10:g.17589923GT[2]GC[5]G[1]	NC_000017.10:g.17589923GT[3]GCG[1]	NC_000017.10:g.17589923GT[3]GC[2]G[1]	NC_000017.10:g.17589923GT[3]GC[3]G[1]	NC_000017.10:g.17589923GT[3]GC[4]G[1]	NC_000017.10:g.17589923GT[3]GC[5]G[1]	NC_000017.10:g.17589923GT[4]GCG[1]	NC_000017.10:g.17589923GT[4]GC[2]G[1]	NC_000017.10:g.17589923GT[4]GC[3]G[1]	NC_000017.10:g.17589923GT[4]GC[4]G[1]	NC_000017.10:g.17589923GT[4]GC[5]G[1]	NC_000017.10:g.17589923GT[5]GCG[1]	NC_000017.10:g.17589923GT[5]GC[2]G[1]	NC_000017.10:g.17589923GT[5]GC[3]G[1]	NC_000017.10:g.17589923GT[5]GC[4]G[1]	NC_000017.10:g.17589923GT[5]GC[5]G[1]	NC_000017.10:g.17589923GT[6]GCG[1]	NC_000017.10:g.17589923GT[6]GC[4]G[1]	NC_000017.10:g.17589923GT[7]GCG[1]	NC_000017.10:g.17589923GT[7]GC[2]G[1]
RAI1 RefSeqGene	NG_007101.2:g.10137=	NG_007101.2:g.10137_10138insTGCG	NG_007101.2:g.10137_10138insTGCGCG	NG_007101.2:g.10137_10138insTGCGCGCG	NG_007101.2:g.10137_10138insTGCGCGCGCG	NG_007101.2:g.10137_10138insTGCGCGCGCGCG	NG_007101.2:g.10137_10138insTGCGCGCGCGCGCG	NG_007101.2:g.10137GTGC[2]GCG[1]	NG_007101.2:g.10137GT[2]GAGCGCGCG[1]	NG_007101.2:g.10137GT[2]GCG[1]	NG_007101.2:g.10137GT[2]GC[2]G[1]	NG_007101.2:g.10137GT[2]GC[3]G[1]	NG_007101.2:g.10137GT[2]GC[4]G[1]	NG_007101.2:g.10137GT[2]GC[5]G[1]	NG_007101.2:g.10137GT[3]GCG[1]	NG_007101.2:g.10137GT[3]GC[2]G[1]	NG_007101.2:g.10137GT[3]GC[3]G[1]	NG_007101.2:g.10137GT[3]GC[4]G[1]	NG_007101.2:g.10137GT[3]GC[5]G[1]	NG_007101.2:g.10137GT[4]GCG[1]	NG_007101.2:g.10137GT[4]GC[2]G[1]	NG_007101.2:g.10137GT[4]GC[3]G[1]	NG_007101.2:g.10137GT[4]GC[4]G[1]	NG_007101.2:g.10137GT[4]GC[5]G[1]	NG_007101.2:g.10137GT[5]GCG[1]	NG_007101.2:g.10137GT[5]GC[2]G[1]	NG_007101.2:g.10137GT[5]GC[3]G[1]	NG_007101.2:g.10137GT[5]GC[4]G[1]	NG_007101.2:g.10137GT[5]GC[5]G[1]	NG_007101.2:g.10137GT[6]GCG[1]	NG_007101.2:g.10137GT[6]GC[4]G[1]	NG_007101.2:g.10137GT[7]GCG[1]	NG_007101.2:g.10137GT[7]GC[2]G[1]
RAI1 transcript	NM_030665.3:c.-149+4816=	NM_030665.3:c.-149+4816_-149+4817insTGCG	NM_030665.3:c.-149+4816_-149+4817insTGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGCGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGCGCGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGCGCGCGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGCGTGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGAGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGCGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGCGCGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGCGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGCGCGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGTGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGTGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGTGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGTGCGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGTGCGCGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGTGTGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGTGTGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGTGTGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGTGTGCGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGTGTGCGCGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGTGTGTGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGTGTGTGCGCGCGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGTGTGTGTGCG	NM_030665.3:c.-149+4816_-149+4817insTGTGTGTGTGTGTGCGCG
RAI1 transcript	NM_030665.4:c.-149+4816=	NM_030665.4:c.-149+4816_-149+4817insTGCG	NM_030665.4:c.-149+4816_-149+4817insTGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGCGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGCGCGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGCGCGCGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGCGTGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGAGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGCGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGCGCGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGCGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGCGCGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGTGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGTGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGTGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGTGCGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGTGCGCGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGTGTGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGTGTGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGTGTGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGTGTGCGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGTGTGCGCGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGTGTGTGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGTGTGTGCGCGCGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGTGTGTGTGCG	NM_030665.4:c.-149+4816_-149+4817insTGTGTGTGTGTGTGCGCG
RAI1 transcript variant X2	XM_047435151.1:c.-149+421=	XM_047435151.1:c.-149+421_-149+422insTGCG	XM_047435151.1:c.-149+421_-149+422insTGCGCG	XM_047435151.1:c.-149+421_-149+422insTGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGCGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGCGCGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGCGCGCGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGCGTGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGAGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGCG	XM_047435151.1:c.-149+421_-149+422insTGTGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGCGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGCGCGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGCGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGCGCGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGTGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGTGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGTGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGTGCGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGTGCGCGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGTGTGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGTGTGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGTGTGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGTGTGCGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGTGTGCGCGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGTGTGTGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGTGTGTGCGCGCGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGTGTGTGTGCG	XM_047435151.1:c.-149+421_-149+422insTGTGTGTGTGTGTGCGCG
RAI1 transcript variant X3	XM_047435152.1:c.-149+2906=	XM_047435152.1:c.-149+2906_-149+2907insTGCG	XM_047435152.1:c.-149+2906_-149+2907insTGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGCGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGCGCGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGCGCGCGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGCGTGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGAGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGCGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGCGCGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGCGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGCGCGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGTGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGTGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGTGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGTGCGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGTGCGCGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGTGTGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGTGTGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGTGTGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGTGTGCGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGTGTGCGCGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGTGTGTGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGTGTGTGCGCGCGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGTGTGTGTGCG	XM_047435152.1:c.-149+2906_-149+2907insTGTGTGTGTGTGTGCGCG
RAI1 transcript variant X4	XM_047435153.1:c.-17+4816=	XM_047435153.1:c.-17+4816_-17+4817insTGCG	XM_047435153.1:c.-17+4816_-17+4817insTGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGCGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGCGCGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGCGCGCGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGCGTGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGAGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGCGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGCGCGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGCGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGCGCGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGTGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGTGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGTGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGTGCGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGTGCGCGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGTGTGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGTGTGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGTGTGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGTGTGCGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGTGTGCGCGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGTGTGTGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGTGTGTGCGCGCGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGTGTGTGTGCG	XM_047435153.1:c.-17+4816_-17+4817insTGTGTGTGTGTGTGCGCG

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#.

57 SubSNP, 44 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SWEGEN	ss3015285961	Jan 10, 2018 (151)
2	SWEGEN	ss3015285962	Jan 10, 2018 (151)
3	SWEGEN	ss3015285963	Jan 10, 2018 (151)
4	SWEGEN	ss3015285964	Jan 10, 2018 (151)
5	EVA_DECODE	ss3700190835	Jul 13, 2019 (153)
6	EVA_DECODE	ss3700190836	Jul 13, 2019 (153)
7	EVA_DECODE	ss3700190837	Jul 13, 2019 (153)
8	EVA_DECODE	ss3700190838	Jul 13, 2019 (153)
9	EVA_DECODE	ss3700190839	Jul 13, 2019 (153)
10	EVA_DECODE	ss3700190840	Jul 13, 2019 (153)
11	ACPOP	ss3741920835	Jul 13, 2019 (153)
12	ACPOP	ss3741920837	Jul 13, 2019 (153)
13	KOGIC	ss3978512635	Apr 27, 2020 (154)
14	KOGIC	ss3978512636	Apr 27, 2020 (154)
15	KOGIC	ss3978512637	Apr 27, 2020 (154)
16	KOGIC	ss3978512638	Apr 27, 2020 (154)
17	GNOMAD	ss4308815359	Apr 26, 2021 (155)
18	GNOMAD	ss4308815360	Apr 26, 2021 (155)
19	GNOMAD	ss4308815361	Apr 26, 2021 (155)
20	GNOMAD	ss4308815362	Apr 26, 2021 (155)
21	GNOMAD	ss4308815363	Apr 26, 2021 (155)
22	GNOMAD	ss4308815364	Apr 26, 2021 (155)
23	GNOMAD	ss4308815365	Apr 26, 2021 (155)
24	GNOMAD	ss4308815366	Apr 26, 2021 (155)
25	GNOMAD	ss4308815367	Apr 26, 2021 (155)
26	GNOMAD	ss4308815368	Apr 26, 2021 (155)
27	GNOMAD	ss4308815369	Apr 26, 2021 (155)
28	GNOMAD	ss4308815370	Apr 26, 2021 (155)
29	GNOMAD	ss4308815371	Apr 26, 2021 (155)
30	GNOMAD	ss4308815372	Apr 26, 2021 (155)
31	GNOMAD	ss4308815373	Apr 26, 2021 (155)
32	GNOMAD	ss4308815374	Apr 26, 2021 (155)
33	GNOMAD	ss4308815375	Apr 26, 2021 (155)
34	GNOMAD	ss4308815376	Apr 26, 2021 (155)
35	GNOMAD	ss4308815377	Apr 26, 2021 (155)
36	GNOMAD	ss4308815378	Apr 26, 2021 (155)
37	GNOMAD	ss4308815379	Apr 26, 2021 (155)
38	GNOMAD	ss4308815380	Apr 26, 2021 (155)
39	GNOMAD	ss4308815381	Apr 26, 2021 (155)
40	GNOMAD	ss4308815382	Apr 26, 2021 (155)
41	GNOMAD	ss4308815383	Apr 26, 2021 (155)
42	GNOMAD	ss4308815384	Apr 26, 2021 (155)
43	GNOMAD	ss4308815385	Apr 26, 2021 (155)
44	GNOMAD	ss4308815386	Apr 26, 2021 (155)
45	GNOMAD	ss4308815387	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5221739588	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5221739589	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5221739590	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5221739592	Apr 26, 2021 (155)
50	HUGCELL_USP	ss5495766665	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5495766666	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5495766668	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5777406364	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5777406366	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5777406368	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5777406369	Oct 16, 2022 (156)
57	YY_MCH	ss5816384724	Oct 16, 2022 (156)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 502940771 (NC_000017.11:17686608::GTGC 7/127302) Row 502940772 (NC_000017.11:17686608::GTGCGC 33/127302) Row 502940773 (NC_000017.11:17686608::GTGCGCGC 492/127302)...	-	Apr 26, 2021 (155)
87	Korean Genome Project Submission ignored due to conflicting rows: Row 34890636 (NC_000017.11:17686608::GTGCGCGC 4/1822) Row 34890637 (NC_000017.11:17686608::GTGTGCGCGC 17/1822) Row 34890638 (NC_000017.11:17686608::GTGCGCGCGC 2/1822)...	-	Apr 27, 2020 (154)
88	Korean Genome Project Submission ignored due to conflicting rows: Row 34890636 (NC_000017.11:17686608::GTGCGCGC 4/1822) Row 34890637 (NC_000017.11:17686608::GTGTGCGCGC 17/1822) Row 34890638 (NC_000017.11:17686608::GTGCGCGCGC 2/1822)...	-	Apr 27, 2020 (154)
89	Korean Genome Project Submission ignored due to conflicting rows: Row 34890636 (NC_000017.11:17686608::GTGCGCGC 4/1822) Row 34890637 (NC_000017.11:17686608::GTGTGCGCGC 17/1822) Row 34890638 (NC_000017.11:17686608::GTGCGCGCGC 2/1822)...	-	Apr 27, 2020 (154)
90	Korean Genome Project Submission ignored due to conflicting rows: Row 34890636 (NC_000017.11:17686608::GTGCGCGC 4/1822) Row 34890637 (NC_000017.11:17686608::GTGTGCGCGC 17/1822) Row 34890638 (NC_000017.11:17686608::GTGCGCGCGC 2/1822)...	-	Apr 27, 2020 (154)
91	Northern Sweden Submission ignored due to conflicting rows: Row 15205700 (NC_000017.10:17589922::GTGTGCGCGC 13/600) Row 15205702 (NC_000017.10:17589922::GTGCGCGC 2/600)	-	Jul 13, 2019 (153)
92	Northern Sweden Submission ignored due to conflicting rows: Row 15205700 (NC_000017.10:17589922::GTGTGCGCGC 13/600) Row 15205702 (NC_000017.10:17589922::GTGCGCGC 2/600)	-	Jul 13, 2019 (153)
93	8.3KJPN Submission ignored due to conflicting rows: Row 79708895 (NC_000017.10:17589922::GTGCGCGC 275/16560) Row 79708896 (NC_000017.10:17589922::GTGTGTGCGCGC 26/16560) Row 79708897 (NC_000017.10:17589922::GTGTGCGCGC 217/16560)...	-	Apr 26, 2021 (155)
94	8.3KJPN Submission ignored due to conflicting rows: Row 79708895 (NC_000017.10:17589922::GTGCGCGC 275/16560) Row 79708896 (NC_000017.10:17589922::GTGTGTGCGCGC 26/16560) Row 79708897 (NC_000017.10:17589922::GTGTGCGCGC 217/16560)...	-	Apr 26, 2021 (155)
95	8.3KJPN Submission ignored due to conflicting rows: Row 79708895 (NC_000017.10:17589922::GTGCGCGC 275/16560) Row 79708896 (NC_000017.10:17589922::GTGTGTGCGCGC 26/16560) Row 79708897 (NC_000017.10:17589922::GTGTGCGCGC 217/16560)...	-	Apr 26, 2021 (155)
96	8.3KJPN Submission ignored due to conflicting rows: Row 79708895 (NC_000017.10:17589922::GTGCGCGC 275/16560) Row 79708896 (NC_000017.10:17589922::GTGTGTGCGCGC 26/16560) Row 79708897 (NC_000017.10:17589922::GTGTGCGCGC 217/16560)...	-	Apr 26, 2021 (155)
97	14KJPN Submission ignored due to conflicting rows: Row 111243468 (NC_000017.11:17686608::GTGTGCGCGC 304/27486) Row 111243470 (NC_000017.11:17686608::GTGCGCGC 396/27486) Row 111243472 (NC_000017.11:17686608::GTGTGTGCGCGC 38/27486)...	-	Oct 16, 2022 (156)
98	14KJPN Submission ignored due to conflicting rows: Row 111243468 (NC_000017.11:17686608::GTGTGCGCGC 304/27486) Row 111243470 (NC_000017.11:17686608::GTGCGCGC 396/27486) Row 111243472 (NC_000017.11:17686608::GTGTGTGCGCGC 38/27486)...	-	Oct 16, 2022 (156)
99	14KJPN Submission ignored due to conflicting rows: Row 111243468 (NC_000017.11:17686608::GTGTGCGCGC 304/27486) Row 111243470 (NC_000017.11:17686608::GTGCGCGC 396/27486) Row 111243472 (NC_000017.11:17686608::GTGTGTGCGCGC 38/27486)...	-	Oct 16, 2022 (156)
100	14KJPN Submission ignored due to conflicting rows: Row 111243468 (NC_000017.11:17686608::GTGTGCGCGC 304/27486) Row 111243470 (NC_000017.11:17686608::GTGCGCGC 396/27486) Row 111243472 (NC_000017.11:17686608::GTGTGTGCGCGC 38/27486)...	-	Oct 16, 2022 (156)
101	ALFA	NC_000017.11 - 17686609	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
ss4308815359	NC_000017.11:17686608::GTGC	NC_000017.11:17686608:G:GTGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGCG	NC_000017.11:17686608:G:GTGCG	(self)
ss4308815360	NC_000017.11:17686608::GTGCGC	NC_000017.11:17686608:G:GTGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGCGCG	NC_000017.11:17686608:G:GTGCGCG	(self)
ss3015285961, ss3741920837, ss5221739588	NC_000017.10:17589922::GTGCGCGC	NC_000017.11:17686608:G:GTGCGCGCG	(self)
ss3700190835, ss3978512635, ss4308815361, ss5495766665, ss5777406366	NC_000017.11:17686608::GTGCGCGC	NC_000017.11:17686608:G:GTGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGCGCGCG	NC_000017.11:17686608:G:GTGCGCGCG	(self)
ss5221739592	NC_000017.10:17589922::GTGCGCGCGC	NC_000017.11:17686608:G:GTGCGCGCGCG	(self)
ss3978512637, ss4308815362, ss5495766668, ss5777406369	NC_000017.11:17686608::GTGCGCGCGC	NC_000017.11:17686608:G:GTGCGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGCGCGCGCG	NC_000017.11:17686608:G:GTGCGCGCGCG	(self)
ss4308815363	NC_000017.11:17686608::GTGCGCGCGCGC	NC_000017.11:17686608:G:GTGCGCGCGC… NC_000017.11:17686608:G:GTGCGCGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGCGCGCGC… NC_000017.11:17686608:G:GTGCGCGCGCGCG	NC_000017.11:17686608:G:GTGCGCGCGC… NC_000017.11:17686608:G:GTGCGCGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGCGCGCGC… NC_000017.11:17686608:G:GTGCGCGCGCGCGCG	NC_000017.11:17686608:G:GTGCGCGCGC… NC_000017.11:17686608:G:GTGCGCGCGCGCGCG	(self)
ss4308815364	NC_000017.11:17686608::GTGCGTGCGC	NC_000017.11:17686608:G:GTGCGTGCGCG	(self)
ss4308815365	NC_000017.11:17686608::GTGTGAGCGCGC	NC_000017.11:17686608:G:GTGTGAGCGC… NC_000017.11:17686608:G:GTGTGAGCGCGCG	(self)
ss3700190837, ss4308815366	NC_000017.11:17686608::GTGTGC	NC_000017.11:17686608:G:GTGTGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGCG	NC_000017.11:17686608:G:GTGTGCG	(self)
ss4308815367	NC_000017.11:17686608::GTGTGCGC	NC_000017.11:17686608:G:GTGTGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGCGCG	NC_000017.11:17686608:G:GTGTGCGCG	(self)
ss3015285962, ss3741920835, ss5221739590	NC_000017.10:17589922::GTGTGCGCGC	NC_000017.11:17686608:G:GTGTGCGCGCG	(self)
ss3700190836, ss3978512636, ss4308815368, ss5495766666, ss5777406364, ss5816384724	NC_000017.11:17686608::GTGTGCGCGC	NC_000017.11:17686608:G:GTGTGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGCGCGCG	NC_000017.11:17686608:G:GTGTGCGCGCG	(self)
ss3015285963	NC_000017.10:17589922::GTGTGCGCGCGC	NC_000017.11:17686608:G:GTGTGCGCGC… NC_000017.11:17686608:G:GTGTGCGCGCGCG	(self)
ss4308815369	NC_000017.11:17686608::GTGTGCGCGCGC	NC_000017.11:17686608:G:GTGTGCGCGC… NC_000017.11:17686608:G:GTGTGCGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGCGCGC… NC_000017.11:17686608:G:GTGTGCGCGCGCG	NC_000017.11:17686608:G:GTGTGCGCGC… NC_000017.11:17686608:G:GTGTGCGCGCGCG	(self)
ss4308815370	NC_000017.11:17686608::GTGTGCGCGCG… NC_000017.11:17686608::GTGTGCGCGCGCGC	NC_000017.11:17686608:G:GTGTGCGCGC… NC_000017.11:17686608:G:GTGTGCGCGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGCGCGC… NC_000017.11:17686608:G:GTGTGCGCGCGCGCG	NC_000017.11:17686608:G:GTGTGCGCGC… NC_000017.11:17686608:G:GTGTGCGCGCGCGCG	(self)
ss3700190838, ss4308815371	NC_000017.11:17686608::GTGTGTGC	NC_000017.11:17686608:G:GTGTGTGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGCG	NC_000017.11:17686608:G:GTGTGTGCG	(self)
ss4308815372	NC_000017.11:17686608::GTGTGTGCGC	NC_000017.11:17686608:G:GTGTGTGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGCGCG	NC_000017.11:17686608:G:GTGTGTGCGCG	(self)
ss5221739589	NC_000017.10:17589922::GTGTGTGCGCGC	NC_000017.11:17686608:G:GTGTGTGCGC… NC_000017.11:17686608:G:GTGTGTGCGCGCG	(self)
ss3978512638, ss4308815373, ss5777406368	NC_000017.11:17686608::GTGTGTGCGCGC	NC_000017.11:17686608:G:GTGTGTGCGC… NC_000017.11:17686608:G:GTGTGTGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGCGC… NC_000017.11:17686608:G:GTGTGTGCGCGCG	NC_000017.11:17686608:G:GTGTGTGCGC… NC_000017.11:17686608:G:GTGTGTGCGCGCG	(self)
ss3015285964	NC_000017.10:17589922::GTGTGTGCGCG… NC_000017.10:17589922::GTGTGTGCGCGCGC	NC_000017.11:17686608:G:GTGTGTGCGC… NC_000017.11:17686608:G:GTGTGTGCGCGCGCG	(self)
ss4308815374	NC_000017.11:17686608::GTGTGTGCGCG… NC_000017.11:17686608::GTGTGTGCGCGCGC	NC_000017.11:17686608:G:GTGTGTGCGC… NC_000017.11:17686608:G:GTGTGTGCGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGCGC… NC_000017.11:17686608:G:GTGTGTGCGCGCGCG	NC_000017.11:17686608:G:GTGTGTGCGC… NC_000017.11:17686608:G:GTGTGTGCGCGCGCG	(self)
ss4308815375	NC_000017.11:17686608::GTGTGTGCGCG… NC_000017.11:17686608::GTGTGTGCGCGCGCGC	NC_000017.11:17686608:G:GTGTGTGCGC… NC_000017.11:17686608:G:GTGTGTGCGCGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGCGC… NC_000017.11:17686608:G:GTGTGTGCGCGCGCGCG	NC_000017.11:17686608:G:GTGTGTGCGC… NC_000017.11:17686608:G:GTGTGTGCGCGCGCGCG	(self)
ss3700190839, ss4308815376	NC_000017.11:17686608::GTGTGTGTGC	NC_000017.11:17686608:G:GTGTGTGTGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGTGCG	NC_000017.11:17686608:G:GTGTGTGTGCG	(self)
ss4308815377	NC_000017.11:17686608::GTGTGTGTGCGC	NC_000017.11:17686608:G:GTGTGTGTGC… NC_000017.11:17686608:G:GTGTGTGTGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGTGC… NC_000017.11:17686608:G:GTGTGTGTGCGCG	NC_000017.11:17686608:G:GTGTGTGTGC… NC_000017.11:17686608:G:GTGTGTGTGCGCG	(self)
ss4308815378	NC_000017.11:17686608::GTGTGTGTGCG… NC_000017.11:17686608::GTGTGTGTGCGCGC	NC_000017.11:17686608:G:GTGTGTGTGC… NC_000017.11:17686608:G:GTGTGTGTGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGTGC… NC_000017.11:17686608:G:GTGTGTGTGCGCGCG	NC_000017.11:17686608:G:GTGTGTGTGC… NC_000017.11:17686608:G:GTGTGTGTGCGCGCG	(self)
ss4308815379	NC_000017.11:17686608::GTGTGTGTGCG… NC_000017.11:17686608::GTGTGTGTGCGCGCGC	NC_000017.11:17686608:G:GTGTGTGTGC… NC_000017.11:17686608:G:GTGTGTGTGCGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGTGC… NC_000017.11:17686608:G:GTGTGTGTGCGCGCGCG	NC_000017.11:17686608:G:GTGTGTGTGC… NC_000017.11:17686608:G:GTGTGTGTGCGCGCGCG	(self)
ss4308815380	NC_000017.11:17686608::GTGTGTGTGCG… NC_000017.11:17686608::GTGTGTGTGCGCGCGCGC	NC_000017.11:17686608:G:GTGTGTGTGC… NC_000017.11:17686608:G:GTGTGTGTGCGCGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGTGC… NC_000017.11:17686608:G:GTGTGTGTGCGCGCGCGCG	NC_000017.11:17686608:G:GTGTGTGTGC… NC_000017.11:17686608:G:GTGTGTGTGCGCGCGCGCG	(self)
ss3700190840, ss4308815381	NC_000017.11:17686608::GTGTGTGTGTGC	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGCG	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGCG	(self)
ss4308815382	NC_000017.11:17686608::GTGTGTGTGTG… NC_000017.11:17686608::GTGTGTGTGTGCGC	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGCGCG	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGCGCG	(self)
ss4308815383	NC_000017.11:17686608::GTGTGTGTGTG… NC_000017.11:17686608::GTGTGTGTGTGCGCGC	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGCGCGCG	(self)
ss4308815384	NC_000017.11:17686608::GTGTGTGTGTG… NC_000017.11:17686608::GTGTGTGTGTGCGCGCGC	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGCGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGCGCGCGCG	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGCGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGCGCGCGCGCG	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGCGCGCGCGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGTGCG	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGTGCG	(self)
ss4308815385	NC_000017.11:17686608::GTGTGTGTGTG… NC_000017.11:17686608::GTGTGTGTGTGTGCGCGCGC	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGTGCGCGCGCG	(self)
ss4308815386	NC_000017.11:17686608::GTGTGTGTGTG… NC_000017.11:17686608::GTGTGTGTGTGTGTGC	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGTGTGCG	(self)
8414149849	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGTGTGCG	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGTGTGCG	(self)
ss4308815387	NC_000017.11:17686608::GTGTGTGTGTG… NC_000017.11:17686608::GTGTGTGTGTGTGTGCGC	NC_000017.11:17686608:G:GTGTGTGTGT… NC_000017.11:17686608:G:GTGTGTGTGTGTGTGCGCG	(self)

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

No publications for rs1491248703

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

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491248703