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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.

rs777433060

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:3500775 (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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000014 (2/140274, GnomAD)
A=0.00004 (1/28258, 14KJPN)
A=0.00006 (1/16760, 8.3KJPN) (+ 4 more)
G=0.00000 (0/14048, ALFA)
T=0.00000 (0/14048, ALFA)
G=0.0000 (0/3854, ALSPAC)
G=0.0003 (1/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DOK7 : 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 14048 C=1.00000 G=0.00000, T=0.00000
European Sub 9688 C=1.0000 G=0.0000, T=0.0000
African Sub 2898 C=1.0000 G=0.0000, T=0.0000
African Others Sub 114 C=1.000 G=0.000, T=0.000
African American Sub 2784 C=1.0000 G=0.0000, T=0.0000
Asian Sub 112 C=1.000 G=0.000, T=0.000
East Asian Sub 86 C=1.00 G=0.00, T=0.00
Other Asian Sub 26 C=1.00 G=0.00, T=0.00
Latin American 1 Sub 146 C=1.000 G=0.000, T=0.000
Latin American 2 Sub 610 C=1.000 G=0.000, T=0.000
South Asian Sub 98 C=1.00 G=0.00, T=0.00
Other Sub 496 C=1.000 G=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
gnomAD - Genomes Global Study-wide 140274 C=0.999986 G=0.000014
gnomAD - Genomes European Sub 75950 C=0.99999 G=0.00001
gnomAD - Genomes African Sub 42048 C=0.99998 G=0.00002
gnomAD - Genomes American Sub 13666 C=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2152 C=1.0000 G=0.0000
14KJPN JAPANESE Study-wide 28258 C=0.99996 A=0.00004
8.3KJPN JAPANESE Study-wide 16760 C=0.99994 A=0.00006
Allele Frequency Aggregator Total Global 14048 C=1.00000 G=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9688 C=1.0000 G=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 G=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 G=0.00, T=0.00
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=1.0000 G=0.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9997 G=0.0003
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 4 NC_000004.12:g.3500775C>A
GRCh38.p14 chr 4 NC_000004.12:g.3500775C>G
GRCh38.p14 chr 4 NC_000004.12:g.3500775C>T
GRCh37.p13 chr 4 NC_000004.11:g.3502502C>A
GRCh37.p13 chr 4 NC_000004.11:g.3502502C>G
GRCh37.p13 chr 4 NC_000004.11:g.3502502C>T
DOK7 RefSeqGene (LRG_869) NG_013072.2:g.42470C>A
DOK7 RefSeqGene (LRG_869) NG_013072.2:g.42470C>G
DOK7 RefSeqGene (LRG_869) NG_013072.2:g.42470C>T
Gene: DOK7, docking protein 7 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DOK7 transcript variant 2 NM_001164673.2:c. N/A Genic Downstream Transcript Variant
DOK7 transcript variant 3 NM_001256896.2:c. N/A Genic Downstream Transcript Variant
DOK7 transcript variant 1 NM_173660.5:c. N/A Genic Downstream Transcript Variant
DOK7 transcript variant 4 NM_001301071.2:c.1777C>A R [CGG] > R [AGG] Coding Sequence Variant
protein Dok-7 isoform 4 NP_001288000.1:p.Arg593= R (Arg) > R (Arg) Synonymous Variant
DOK7 transcript variant 4 NM_001301071.2:c.1777C>G R [CGG] > G [GGG] Coding Sequence Variant
protein Dok-7 isoform 4 NP_001288000.1:p.Arg593Gly R (Arg) > G (Gly) Missense Variant
DOK7 transcript variant 4 NM_001301071.2:c.1777C>T R [CGG] > W [TGG] Coding Sequence Variant
protein Dok-7 isoform 4 NP_001288000.1:p.Arg593Trp R (Arg) > W (Trp) Missense Variant
DOK7 transcript variant 5 NM_001363811.2:c.1345C>A R [CGG] > R [AGG] Coding Sequence Variant
protein Dok-7 isoform 5 NP_001350740.1:p.Arg449= R (Arg) > R (Arg) Synonymous Variant
DOK7 transcript variant 5 NM_001363811.2:c.1345C>G R [CGG] > G [GGG] Coding Sequence Variant
protein Dok-7 isoform 5 NP_001350740.1:p.Arg449Gly R (Arg) > G (Gly) Missense Variant
DOK7 transcript variant 5 NM_001363811.2:c.1345C>T R [CGG] > W [TGG] Coding Sequence Variant
protein Dok-7 isoform 5 NP_001350740.1:p.Arg449Trp R (Arg) > W (Trp) Missense Variant
DOK7 transcript variant X1 XM_011513435.3:c. N/A Genic Downstream Transcript Variant
DOK7 transcript variant X2 XM_047450078.1:c. N/A Genic Downstream Transcript Variant
DOK7 transcript variant X3 XM_047450079.1:c. N/A Genic Downstream Transcript Variant
DOK7 transcript variant X5 XM_047450081.1:c. N/A Genic Downstream Transcript Variant
DOK7 transcript variant X4 XM_047450080.1:c.847C>A R [CGG] > R [AGG] Coding Sequence Variant
protein Dok-7 isoform X4 XP_047306036.1:p.Arg283= R (Arg) > R (Arg) Synonymous Variant
DOK7 transcript variant X4 XM_047450080.1:c.847C>G R [CGG] > G [GGG] Coding Sequence Variant
protein Dok-7 isoform X4 XP_047306036.1:p.Arg283Gly R (Arg) > G (Gly) Missense Variant
DOK7 transcript variant X4 XM_047450080.1:c.847C>T R [CGG] > W [TGG] Coding Sequence Variant
protein Dok-7 isoform X4 XP_047306036.1:p.Arg283Trp R (Arg) > W (Trp) 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.

Not Reported in ClinVar
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 C= A G T
GRCh38.p14 chr 4 NC_000004.12:g.3500775= NC_000004.12:g.3500775C>A NC_000004.12:g.3500775C>G NC_000004.12:g.3500775C>T
GRCh37.p13 chr 4 NC_000004.11:g.3502502= NC_000004.11:g.3502502C>A NC_000004.11:g.3502502C>G NC_000004.11:g.3502502C>T
DOK7 RefSeqGene (LRG_869) NG_013072.2:g.42470= NG_013072.2:g.42470C>A NG_013072.2:g.42470C>G NG_013072.2:g.42470C>T
DOK7 transcript variant 4 NM_001301071.2:c.1777= NM_001301071.2:c.1777C>A NM_001301071.2:c.1777C>G NM_001301071.2:c.1777C>T
DOK7 transcript variant 4 NM_001301071.1:c.1777= NM_001301071.1:c.1777C>A NM_001301071.1:c.1777C>G NM_001301071.1:c.1777C>T
DOK7 transcript variant 5 NM_001363811.2:c.1345= NM_001363811.2:c.1345C>A NM_001363811.2:c.1345C>G NM_001363811.2:c.1345C>T
DOK7 transcript variant 5 NM_001363811.1:c.1345= NM_001363811.1:c.1345C>A NM_001363811.1:c.1345C>G NM_001363811.1:c.1345C>T
DOK7 transcript variant X4 XM_047450080.1:c.847= XM_047450080.1:c.847C>A XM_047450080.1:c.847C>G XM_047450080.1:c.847C>T
protein Dok-7 isoform 4 NP_001288000.1:p.Arg593= NP_001288000.1:p.Arg593= NP_001288000.1:p.Arg593Gly NP_001288000.1:p.Arg593Trp
protein Dok-7 isoform 5 NP_001350740.1:p.Arg449= NP_001350740.1:p.Arg449= NP_001350740.1:p.Arg449Gly NP_001350740.1:p.Arg449Trp
protein Dok-7 isoform X4 XP_047306036.1:p.Arg283= XP_047306036.1:p.Arg283= XP_047306036.1:p.Arg283Gly XP_047306036.1:p.Arg283Trp
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#.

10 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_UK10K_ALSPAC ss1609267673 Apr 01, 2015 (144)
2 EVA_UK10K_TWINSUK ss1652261706 Apr 01, 2015 (144)
3 HUMAN_LONGEVITY ss2259954949 Dec 20, 2016 (150)
4 GNOMAD ss2734374011 Nov 08, 2017 (151)
5 GNOMAD ss2747196100 Nov 08, 2017 (151)
6 GNOMAD ss2804863878 Nov 08, 2017 (151)
7 TOPMED ss4600693093 Apr 26, 2021 (155)
8 TOPMED ss4600693094 Apr 26, 2021 (155)
9 TOMMO_GENOMICS ss5163892257 Apr 26, 2021 (155)
10 TOMMO_GENOMICS ss5697453702 Oct 13, 2022 (156)
11 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 3502502 Oct 12, 2018 (152)
12 gnomAD - Genomes NC_000004.12 - 3500775 Apr 26, 2021 (155)
13 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 3474752 (NC_000004.11:3502501:C:C 133830/133834, NC_000004.11:3502501:C:G 4/133834)
Row 3474753 (NC_000004.11:3502501:C:C 133833/133834, NC_000004.11:3502501:C:T 1/133834)

- Jul 13, 2019 (153)
14 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 3474752 (NC_000004.11:3502501:C:C 133830/133834, NC_000004.11:3502501:C:G 4/133834)
Row 3474753 (NC_000004.11:3502501:C:C 133833/133834, NC_000004.11:3502501:C:T 1/133834)

- Jul 13, 2019 (153)
15 8.3KJPN NC_000004.11 - 3502502 Apr 26, 2021 (155)
16 14KJPN NC_000004.12 - 3500775 Oct 13, 2022 (156)
17 TopMed

Submission ignored due to conflicting rows:
Row 438070649 (NC_000004.12:3500774:C:G 1/264690)
Row 438070650 (NC_000004.12:3500774:C:T 2/264690)

- Apr 26, 2021 (155)
18 TopMed

Submission ignored due to conflicting rows:
Row 438070649 (NC_000004.12:3500774:C:G 1/264690)
Row 438070650 (NC_000004.12:3500774:C:T 2/264690)

- Apr 26, 2021 (155)
19 UK 10K study - Twins NC_000004.11 - 3502502 Oct 12, 2018 (152)
20 ALFA NC_000004.12 - 3500775 Apr 26, 2021 (155)
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
21861564, ss5163892257 NC_000004.11:3502501:C:A NC_000004.12:3500774:C:A (self)
31290806, ss5697453702 NC_000004.12:3500774:C:A NC_000004.12:3500774:C:A
10862661, 10862661, ss1609267673, ss1652261706, ss2734374011, ss2747196100, ss2804863878 NC_000004.11:3502501:C:G NC_000004.12:3500774:C:G (self)
138360980, 7182001445, ss2259954949, ss4600693093 NC_000004.12:3500774:C:G NC_000004.12:3500774:C:G (self)
ss2734374011 NC_000004.11:3502501:C:T NC_000004.12:3500774:C:T (self)
7182001445, ss4600693094 NC_000004.12:3500774:C:T NC_000004.12:3500774:C: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 rs777433060

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