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dbSNP Short Genetic Variations

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.

rs3107975

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:55326 (GRCh38.p13) 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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.041865 (4362/104192, GnomAD)
C=0.09535 (1574/16508, 8.3KJPN)
C=0.03041 (372/12232, ALFA) (+ 8 more)
C=0.0459 (230/5008, 1000G)
C=0.1072 (308/2872, KOREAN)
C=0.1104 (199/1802, Korea1K)
C=0.012 (12/998, GoNL)
C=0.054 (9/168, Qatari)
T=0.42 (28/66, SGDP_PRJ)
T=0.5 (2/4, Siberian)
C=0.5 (2/4, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.55326T>C
GRCh37.p13 chr 1 NC_000001.10:g.55326T>C
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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 12232 T=0.96959 C=0.03041
European Sub 7752 T=0.9804 C=0.0196
African Sub 2864 T=0.9396 C=0.0604
African Others Sub 108 T=0.972 C=0.028
African American Sub 2756 T=0.9383 C=0.0617
Asian Sub 108 T=0.907 C=0.093
East Asian Sub 84 T=0.89 C=0.11
Other Asian Sub 24 T=0.96 C=0.04
Latin American 1 Sub 146 T=0.959 C=0.041
Latin American 2 Sub 610 T=0.984 C=0.016
South Asian Sub 94 T=0.97 C=0.03
Other Sub 658 T=0.973 C=0.027


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").

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Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Genomes Global Study-wide 104192 T=0.958135 C=0.041865
gnomAD - Genomes European Sub 51382 T=0.97647 C=0.02353
gnomAD - Genomes African Sub 35794 T=0.93175 C=0.06825
gnomAD - Genomes American Sub 10376 T=0.97870 C=0.02130
gnomAD - Genomes East Asian Sub 2992 T=0.8897 C=0.1103
gnomAD - Genomes Ashkenazi Jewish Sub 2078 T=0.9586 C=0.0414
gnomAD - Genomes Other Sub 1570 T=0.9535 C=0.0465
8.3KJPN JAPANESE Study-wide 16508 T=0.90465 C=0.09535
Allele Frequency Aggregator Total Global 12232 T=0.96959 C=0.03041
Allele Frequency Aggregator European Sub 7752 T=0.9804 C=0.0196
Allele Frequency Aggregator African Sub 2864 T=0.9396 C=0.0604
Allele Frequency Aggregator Other Sub 658 T=0.973 C=0.027
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.984 C=0.016
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.959 C=0.041
Allele Frequency Aggregator Asian Sub 108 T=0.907 C=0.093
Allele Frequency Aggregator South Asian Sub 94 T=0.97 C=0.03
1000Genomes Global Study-wide 5008 T=0.9541 C=0.0459
1000Genomes African Sub 1322 T=0.9554 C=0.0446
1000Genomes East Asian Sub 1008 T=0.8919 C=0.1081
1000Genomes Europe Sub 1006 T=0.9871 C=0.0129
1000Genomes South Asian Sub 978 T=0.959 C=0.041
1000Genomes American Sub 694 T=0.987 C=0.013
KOREAN population from KRGDB KOREAN Study-wide 2872 T=0.8928 C=0.1072
Korean Genome Project KOREAN Study-wide 1802 T=0.8896 C=0.1104
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.988 C=0.012
Qatari Global Study-wide 168 T=0.946 C=0.054
SGDP_PRJ Global Study-wide 66 T=0.42 C=0.58
Siberian Global Study-wide 4 T=0.5 C=0.5
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 T= C
GRCh38.p13 chr 1 NC_000001.11:g.55326= NC_000001.11:g.55326T>C
GRCh37.p13 chr 1 NC_000001.10:g.55326= NC_000001.10:g.55326T>C
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#.

26 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss4348809 Mar 26, 2002 (103)
2 ILLUMINA ss159430735 Dec 01, 2009 (131)
3 GMI ss275679903 May 04, 2012 (137)
4 1000GENOMES ss328356517 May 09, 2011 (134)
5 ILLUMINA ss832942341 Aug 21, 2014 (142)
6 ILLUMINA ss833533171 Aug 21, 2014 (142)
7 EVA-GONL ss974768744 Aug 21, 2014 (142)
8 1000GENOMES ss1289335640 Aug 21, 2014 (142)
9 HAMMER_LAB ss1793705031 Sep 08, 2015 (146)
10 WEILL_CORNELL_DGM ss1917958224 Feb 12, 2016 (147)
11 ILLUMINA ss1958229888 Feb 12, 2016 (147)
12 USC_VALOUEV ss2147483702 Dec 20, 2016 (150)
13 GRF ss2697372978 Nov 08, 2017 (151)
14 GNOMAD ss2750603676 Nov 08, 2017 (151)
15 SWEGEN ss2986141911 Nov 08, 2017 (151)
16 ILLUMINA ss3021042930 Nov 08, 2017 (151)
17 TOPMED ss3066320706 Nov 08, 2017 (151)
18 CSHL ss3343271534 Nov 08, 2017 (151)
19 ILLUMINA ss3651364989 Oct 11, 2018 (152)
20 EVA ss3745720525 Jul 12, 2019 (153)
21 KHV_HUMAN_GENOMES ss3798742454 Jul 12, 2019 (153)
22 EVA ss3825981327 Apr 25, 2020 (154)
23 SGDP_PRJ ss3847983923 Apr 25, 2020 (154)
24 KRGDB ss3892823769 Apr 25, 2020 (154)
25 KOGIC ss3943622542 Apr 25, 2020 (154)
26 TOMMO_GENOMICS ss5142032638 Apr 25, 2021 (155)
27 1000Genomes NC_000001.10 - 55326 Oct 11, 2018 (152)
28 gnomAD - Genomes NC_000001.11 - 55326 Apr 25, 2021 (155)
29 Genome of the Netherlands Release 5 NC_000001.10 - 55326 Apr 25, 2020 (154)
30 KOREAN population from KRGDB NC_000001.10 - 55326 Apr 25, 2020 (154)
31 Korean Genome Project NC_000001.11 - 55326 Apr 25, 2020 (154)
32 Qatari NC_000001.10 - 55326 Apr 25, 2020 (154)
33 SGDP_PRJ NC_000001.10 - 55326 Apr 25, 2020 (154)
34 Siberian NC_000001.10 - 55326 Apr 25, 2020 (154)
35 8.3KJPN NC_000001.10 - 55326 Apr 25, 2021 (155)
36 ALFA NC_000001.11 - 55326 Apr 25, 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
ss275679903 NC_000001.9:45188:T:C NC_000001.11:55325:T:C (self)
215, 10, 1163, 154, 903, 56, 1945, ss328356517, ss832942341, ss833533171, ss974768744, ss1289335640, ss1793705031, ss1917958224, ss1958229888, ss2147483702, ss2697372978, ss2750603676, ss2986141911, ss3021042930, ss3343271534, ss3651364989, ss3745720525, ss3825981327, ss3847983923, ss3892823769, ss5142032638 NC_000001.10:55325:T:C NC_000001.11:55325:T:C (self)
3953, 543, 1399942256, ss3066320706, ss3798742454, ss3943622542 NC_000001.11:55325:T:C NC_000001.11:55325:T:C (self)
ss4348809, ss159430735 NT_077402.2:45325:T:C NC_000001.11:55325:T:C (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 rs3107975

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.post596+ae089ad