Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1406214813

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:41764791 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
A=0.000007 (1/140152, GnomAD)
A=0.00005 (1/18520, ALFA) (+ 2 more)
T=0.00005 (1/18520, ALFA)
A=0.0002 (1/4480, Estonian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
JUP : Missense 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 18520 G=0.99989 A=0.00005, T=0.00005
European Sub 14152 G=0.99986 A=0.00007, T=0.00007
African Sub 2898 G=1.0000 A=0.0000, T=0.0000
African Others Sub 114 G=1.000 A=0.000, T=0.000
African American Sub 2784 G=1.0000 A=0.0000, T=0.0000
Asian Sub 112 G=1.000 A=0.000, T=0.000
East Asian Sub 86 G=1.00 A=0.00, T=0.00
Other Asian Sub 26 G=1.00 A=0.00, T=0.00
Latin American 1 Sub 146 G=1.000 A=0.000, T=0.000
Latin American 2 Sub 610 G=1.000 A=0.000, T=0.000
South Asian Sub 98 G=1.00 A=0.00, T=0.00
Other Sub 504 G=1.000 A=0.000, T=0.000


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.999996 T=0.000004
gnomAD - Genomes Global Study-wide 140152 G=0.999993 A=0.000007
gnomAD - Genomes European Sub 75940 G=0.99999 A=0.00001
gnomAD - Genomes African Sub 41992 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13620 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3316 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2150 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 18520 G=0.99989 A=0.00005, T=0.00005
Allele Frequency Aggregator European Sub 14152 G=0.99986 A=0.00007, T=0.00007
Allele Frequency Aggregator African Sub 2898 G=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Other Sub 504 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, T=0.00
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9998 A=0.0002
Help

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.41764791G>A
GRCh38.p14 chr 17 NC_000017.11:g.41764791G>T
GRCh37.p13 chr 17 NC_000017.10:g.39921043G>A
GRCh37.p13 chr 17 NC_000017.10:g.39921043G>T
JUP RefSeqGene (LRG_401) NG_009090.2:g.26922C>T
JUP RefSeqGene (LRG_401) NG_009090.2:g.26922C>A
GRCh37.p13 chr 17 fix patch HG185_PATCH NW_003571052.1:g.51433G>A
GRCh37.p13 chr 17 fix patch HG185_PATCH NW_003571052.1:g.51433G>T
Gene: JUP, junction plakoglobin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
JUP transcript variant 1 NM_002230.4:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin NP_002221.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant 1 NM_002230.4:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin NP_002221.1:p.His360Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant 6 NM_001352776.2:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin NP_001339705.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant 6 NM_001352776.2:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin NP_001339705.1:p.His360Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant 3 NM_001352773.2:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin NP_001339702.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant 3 NM_001352773.2:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin NP_001339702.1:p.His360Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant 2 NM_021991.4:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin NP_068831.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant 2 NM_021991.4:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin NP_068831.1:p.His360Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant 5 NM_001352775.2:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin NP_001339704.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant 5 NM_001352775.2:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin NP_001339704.1:p.His360Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant 4 NM_001352774.2:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin NP_001339703.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant 4 NM_001352774.2:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin NP_001339703.1:p.His360Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant 7 NM_001352777.2:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin NP_001339706.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant 7 NM_001352777.2:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin NP_001339706.1:p.His360Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant X1 XM_047435934.1:c.1131C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin isoform X1 XP_047291890.1:p.His377= H (His) > H (His) Synonymous Variant
JUP transcript variant X1 XM_047435934.1:c.1131C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin isoform X1 XP_047291890.1:p.His377Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant X8 XM_047435935.1:c.1131C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin isoform X1 XP_047291891.1:p.His377= H (His) > H (His) Synonymous Variant
JUP transcript variant X8 XM_047435935.1:c.1131C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin isoform X1 XP_047291891.1:p.His377Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant X2 XM_047435937.1:c.1131C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin isoform X1 XP_047291893.1:p.His377= H (His) > H (His) Synonymous Variant
JUP transcript variant X2 XM_047435937.1:c.1131C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin isoform X1 XP_047291893.1:p.His377Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant X3 XM_006721874.4:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_006721937.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant X3 XM_006721874.4:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_006721937.1:p.His360Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant X6 XM_006721875.2:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_006721938.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant X6 XM_006721875.2:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_006721938.1:p.His360Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant X4 XM_011524758.2:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_011523060.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant X4 XM_011524758.2:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_011523060.1:p.His360Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant X9 XM_047435938.1:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291894.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant X9 XM_047435938.1:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291894.1:p.His360Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant X10 XM_047435939.1:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291895.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant X10 XM_047435939.1:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291895.1:p.His360Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant X7 XM_047435940.1:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291896.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant X7 XM_047435940.1:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291896.1:p.His360Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant X11 XM_047435941.1:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291897.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant X11 XM_047435941.1:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291897.1:p.His360Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant X12 XM_047435942.1:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291898.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant X12 XM_047435942.1:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_047291898.1:p.His360Gln H (His) > Q (Gln) Missense Variant
JUP transcript variant X5 XM_017024590.2:c.1080C>T H [CAC] > H [CAT] Coding Sequence Variant
junction plakoglobin isoform X2 XP_016880079.1:p.His360= H (His) > H (His) Synonymous Variant
JUP transcript variant X5 XM_017024590.2:c.1080C>A H [CAC] > Q [CAA] Coding Sequence Variant
junction plakoglobin isoform X2 XP_016880079.1:p.His360Gln H (His) > Q (Gln) Missense Variant
Help

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

Allele: A (allele ID: 755830 )
ClinVar Accession Disease Names Clinical Significance
RCV000924162.3 not provided Likely-Benign
RCV001439488.4 Arrhythmogenic right ventricular dysplasia 12,Naxos disease Likely-Benign
Help

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= A T
GRCh38.p14 chr 17 NC_000017.11:g.41764791= NC_000017.11:g.41764791G>A NC_000017.11:g.41764791G>T
GRCh37.p13 chr 17 NC_000017.10:g.39921043= NC_000017.10:g.39921043G>A NC_000017.10:g.39921043G>T
JUP RefSeqGene (LRG_401) NG_009090.2:g.26922= NG_009090.2:g.26922C>T NG_009090.2:g.26922C>A
JUP transcript variant 1 NM_002230.4:c.1080= NM_002230.4:c.1080C>T NM_002230.4:c.1080C>A
JUP transcript variant 1 NM_002230.3:c.1080= NM_002230.3:c.1080C>T NM_002230.3:c.1080C>A
JUP transcript variant 1 NM_002230.2:c.1080= NM_002230.2:c.1080C>T NM_002230.2:c.1080C>A
JUP transcript variant 2 NM_021991.4:c.1080= NM_021991.4:c.1080C>T NM_021991.4:c.1080C>A
JUP transcript variant 2 NM_021991.3:c.1080= NM_021991.3:c.1080C>T NM_021991.3:c.1080C>A
JUP transcript variant 2 NM_021991.2:c.1080= NM_021991.2:c.1080C>T NM_021991.2:c.1080C>A
JUP transcript variant 3 NM_001352773.2:c.1080= NM_001352773.2:c.1080C>T NM_001352773.2:c.1080C>A
JUP transcript variant 3 NM_001352773.1:c.1080= NM_001352773.1:c.1080C>T NM_001352773.1:c.1080C>A
JUP transcript variant 6 NM_001352776.2:c.1080= NM_001352776.2:c.1080C>T NM_001352776.2:c.1080C>A
JUP transcript variant 6 NM_001352776.1:c.1080= NM_001352776.1:c.1080C>T NM_001352776.1:c.1080C>A
JUP transcript variant 5 NM_001352775.2:c.1080= NM_001352775.2:c.1080C>T NM_001352775.2:c.1080C>A
JUP transcript variant 5 NM_001352775.1:c.1080= NM_001352775.1:c.1080C>T NM_001352775.1:c.1080C>A
JUP transcript variant 4 NM_001352774.2:c.1080= NM_001352774.2:c.1080C>T NM_001352774.2:c.1080C>A
JUP transcript variant 4 NM_001352774.1:c.1080= NM_001352774.1:c.1080C>T NM_001352774.1:c.1080C>A
JUP transcript variant 7 NM_001352777.2:c.1080= NM_001352777.2:c.1080C>T NM_001352777.2:c.1080C>A
JUP transcript variant 7 NM_001352777.1:c.1080= NM_001352777.1:c.1080C>T NM_001352777.1:c.1080C>A
GRCh37.p13 chr 17 fix patch HG185_PATCH NW_003571052.1:g.51433= NW_003571052.1:g.51433G>A NW_003571052.1:g.51433G>T
JUP transcript variant X3 XM_006721874.4:c.1080= XM_006721874.4:c.1080C>T XM_006721874.4:c.1080C>A
JUP transcript variant X2 XM_006721874.3:c.1080= XM_006721874.3:c.1080C>T XM_006721874.3:c.1080C>A
JUP transcript variant X3 XM_006721874.2:c.1080= XM_006721874.2:c.1080C>T XM_006721874.2:c.1080C>A
JUP transcript variant X1 XM_006721874.1:c.1080= XM_006721874.1:c.1080C>T XM_006721874.1:c.1080C>A
JUP transcript variant X6 XM_006721875.2:c.1080= XM_006721875.2:c.1080C>T XM_006721875.2:c.1080C>A
JUP transcript variant X5 XM_006721875.1:c.1080= XM_006721875.1:c.1080C>T XM_006721875.1:c.1080C>A
JUP transcript variant X5 XM_017024590.2:c.1080= XM_017024590.2:c.1080C>T XM_017024590.2:c.1080C>A
JUP transcript variant X7 XM_017024590.1:c.1080= XM_017024590.1:c.1080C>T XM_017024590.1:c.1080C>A
JUP transcript variant X4 XM_011524758.2:c.1080= XM_011524758.2:c.1080C>T XM_011524758.2:c.1080C>A
JUP transcript variant X6 XM_011524758.1:c.1080= XM_011524758.1:c.1080C>T XM_011524758.1:c.1080C>A
JUP transcript variant X11 XM_047435941.1:c.1080= XM_047435941.1:c.1080C>T XM_047435941.1:c.1080C>A
JUP transcript variant X8 XM_047435935.1:c.1131= XM_047435935.1:c.1131C>T XM_047435935.1:c.1131C>A
JUP transcript variant X1 XM_047435934.1:c.1131= XM_047435934.1:c.1131C>T XM_047435934.1:c.1131C>A
JUP transcript variant X2 XM_047435937.1:c.1131= XM_047435937.1:c.1131C>T XM_047435937.1:c.1131C>A
JUP transcript variant X10 XM_047435939.1:c.1080= XM_047435939.1:c.1080C>T XM_047435939.1:c.1080C>A
JUP transcript variant X7 XM_047435940.1:c.1080= XM_047435940.1:c.1080C>T XM_047435940.1:c.1080C>A
JUP transcript variant X12 XM_047435942.1:c.1080= XM_047435942.1:c.1080C>T XM_047435942.1:c.1080C>A
JUP transcript variant X9 XM_047435938.1:c.1080= XM_047435938.1:c.1080C>T XM_047435938.1:c.1080C>A
junction plakoglobin NP_002221.1:p.His360= NP_002221.1:p.His360= NP_002221.1:p.His360Gln
junction plakoglobin NP_068831.1:p.His360= NP_068831.1:p.His360= NP_068831.1:p.His360Gln
junction plakoglobin NP_001339702.1:p.His360= NP_001339702.1:p.His360= NP_001339702.1:p.His360Gln
junction plakoglobin NP_001339705.1:p.His360= NP_001339705.1:p.His360= NP_001339705.1:p.His360Gln
junction plakoglobin NP_001339704.1:p.His360= NP_001339704.1:p.His360= NP_001339704.1:p.His360Gln
junction plakoglobin NP_001339703.1:p.His360= NP_001339703.1:p.His360= NP_001339703.1:p.His360Gln
junction plakoglobin NP_001339706.1:p.His360= NP_001339706.1:p.His360= NP_001339706.1:p.His360Gln
junction plakoglobin isoform X2 XP_006721937.1:p.His360= XP_006721937.1:p.His360= XP_006721937.1:p.His360Gln
junction plakoglobin isoform X2 XP_006721938.1:p.His360= XP_006721938.1:p.His360= XP_006721938.1:p.His360Gln
junction plakoglobin isoform X2 XP_016880079.1:p.His360= XP_016880079.1:p.His360= XP_016880079.1:p.His360Gln
junction plakoglobin isoform X2 XP_011523060.1:p.His360= XP_011523060.1:p.His360= XP_011523060.1:p.His360Gln
junction plakoglobin isoform X2 XP_047291897.1:p.His360= XP_047291897.1:p.His360= XP_047291897.1:p.His360Gln
junction plakoglobin isoform X1 XP_047291891.1:p.His377= XP_047291891.1:p.His377= XP_047291891.1:p.His377Gln
junction plakoglobin isoform X1 XP_047291890.1:p.His377= XP_047291890.1:p.His377= XP_047291890.1:p.His377Gln
junction plakoglobin isoform X1 XP_047291893.1:p.His377= XP_047291893.1:p.His377= XP_047291893.1:p.His377Gln
junction plakoglobin isoform X2 XP_047291895.1:p.His360= XP_047291895.1:p.His360= XP_047291895.1:p.His360Gln
junction plakoglobin isoform X2 XP_047291896.1:p.His360= XP_047291896.1:p.His360= XP_047291896.1:p.His360Gln
junction plakoglobin isoform X2 XP_047291898.1:p.His360= XP_047291898.1:p.His360= XP_047291898.1:p.His360Gln
junction plakoglobin isoform X2 XP_047291894.1:p.His360= XP_047291894.1:p.His360= XP_047291894.1:p.His360Gln
Help

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#.

5 SubSNP, 4 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2749774217 Oct 12, 2018 (152)
2 GNOMAD ss2949815531 Oct 12, 2018 (152)
3 EGCUT_WGS ss3682416273 Jul 13, 2019 (153)
4 GNOMAD ss4311496376 Apr 26, 2021 (155)
5 TOPMED ss5035824566 Apr 26, 2021 (155)
6 Genetic variation in the Estonian population NC_000017.10 - 39921043 Oct 12, 2018 (152)
7 gnomAD - Genomes NC_000017.11 - 41764791 Apr 26, 2021 (155)
8 TopMed NC_000017.11 - 41764791 Apr 26, 2021 (155)
9 ALFA NC_000017.11 - 41764791 Apr 26, 2021 (155)
10 ClinVar RCV000924162.3 Oct 16, 2022 (156)
11 ClinVar RCV001439488.4 Oct 16, 2022 (156)
Help

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
28154521, ss2749774217, ss2949815531, ss3682416273 NC_000017.10:39921042:G:A NC_000017.11:41764790:G:A (self)
RCV000924162.3, RCV001439488.4, 507102774, 11877076202, ss4311496376 NC_000017.11:41764790:G:A NC_000017.11:41764790:G:A (self)
251370228, 11877076202, ss5035824566 NC_000017.11:41764790:G:T NC_000017.11:41764790:G:T (self)
Help

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

No publications for rs1406214813

Help

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.

Software version is: 2.0.1.post761+d5e8e07