Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs75935175

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:722408 (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
G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.336125 (88969/264690, TOPMED)
G=0.307539 (37457/121796, GnomAD)
G=0.31170 (5173/16596, 8.3KJPN) (+ 6 more)
G=0.4755 (3344/7032, ALFA)
G=0.3137 (916/2920, KOREAN)
G=0.238 (143/600, NorthernSweden)
G=0.259 (116/448, SGDP_PRJ)
G=0.311 (59/190, Qatari)
G=0.08 (3/38, GENOME_DK)
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.722408G>C
GRCh38.p13 chr 1 NC_000001.11:g.722408G>T
GRCh37.p13 chr 1 NC_000001.10:g.657788G>C
GRCh37.p13 chr 1 NC_000001.10:g.657788G>T
CICP3 pseudogene NG_016558.2:g.463G>C
CICP3 pseudogene NG_016558.2:g.463G>T
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 7032 G=0.4755 C=0.5245, T=0.0000
European Sub 5276 G=0.3292 C=0.6708, T=0.0000
African Sub 1630 G=0.9141 C=0.0859, T=0.0000
African Others Sub 74 G=0.95 C=0.05, T=0.00
African American Sub 1556 G=0.9126 C=0.0874, T=0.0000
Asian Sub 6 G=1.0 C=0.0, T=0.0
East Asian Sub 6 G=1.0 C=0.0, T=0.0
Other Asian Sub 0 G=0 C=0, T=0
Latin American 1 Sub 20 G=1.00 C=0.00, T=0.00
Latin American 2 Sub 20 G=1.00 C=0.00, T=0.00
South Asian Sub 2 G=1.0 C=0.0, T=0.0
Other Sub 78 G=0.88 C=0.12, T=0.00


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=0.336125 C=0.663875
gnomAD - Genomes Global Study-wide 121796 G=0.307539 C=0.692461
gnomAD - Genomes European Sub 69472 G=0.16317 C=0.83683
gnomAD - Genomes African Sub 33012 G=0.66906 C=0.33094
gnomAD - Genomes American Sub 11756 G=0.21640 C=0.78360
gnomAD - Genomes Ashkenazi Jewish Sub 3154 G=0.1630 C=0.8370
gnomAD - Genomes East Asian Sub 2614 G=0.1829 C=0.8171
gnomAD - Genomes Other Sub 1788 G=0.2785 C=0.7215
8.3KJPN JAPANESE Study-wide 16596 G=0.31170 C=0.68830
KOREAN population from KRGDB KOREAN Study-wide 2920 G=0.3137 C=0.6863
Northern Sweden ACPOP Study-wide 600 G=0.238 C=0.762
SGDP_PRJ Global Study-wide 448 G=0.259 C=0.741
Qatari Global Study-wide 190 G=0.311 C=0.689
The Danish reference pan genome Danish Study-wide 38 G=0.08 C=0.92
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= C T
GRCh38.p13 chr 1 NC_000001.11:g.722408= NC_000001.11:g.722408G>C NC_000001.11:g.722408G>T
GRCh37.p13 chr 1 NC_000001.10:g.657788= NC_000001.10:g.657788G>C NC_000001.10:g.657788G>T
CICP3 pseudogene NG_016558.2:g.463= NG_016558.2:g.463G>C NG_016558.2:g.463G>T
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#.

18 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 ENSEMBL ss131805163 Dec 01, 2009 (131)
2 ENSEMBL ss143563037 Dec 01, 2009 (131)
3 EVA_GENOME_DK ss1573850999 Apr 01, 2015 (147)
4 PADH-LAB_SPU ss1713846966 Sep 08, 2015 (147)
5 WEILL_CORNELL_DGM ss1917959509 Feb 12, 2016 (147)
6 TMC_SNPDB ss1997003710 Jul 19, 2016 (147)
7 JJLAB ss2019498147 Sep 14, 2016 (149)
8 GRF ss2697373890 Nov 08, 2017 (151)
9 GNOMAD ss2750628189 Nov 08, 2017 (151)
10 SWEGEN ss2986146764 Nov 08, 2017 (151)
11 SWEGEN ss2986146765 Nov 08, 2017 (151)
12 TOPMED ss3066378895 Nov 08, 2017 (151)
13 URBANLAB ss3646581039 Oct 11, 2018 (152)
14 ACPOP ss3726715860 Jul 12, 2019 (153)
15 SGDP_PRJ ss3847992551 Apr 25, 2020 (154)
16 KRGDB ss3892831905 Apr 25, 2020 (154)
17 TOPMED ss4436415606 Apr 25, 2021 (155)
18 TOMMO_GENOMICS ss5142046912 Apr 25, 2021 (155)
19 The Danish reference pan genome NC_000001.10 - 657788 Apr 25, 2020 (154)
20 gnomAD - Genomes NC_000001.11 - 722408 Apr 25, 2021 (155)
21 KOREAN population from KRGDB NC_000001.10 - 657788 Apr 25, 2020 (154)
22 Northern Sweden NC_000001.10 - 657788 Jul 12, 2019 (153)
23 Qatari NC_000001.10 - 657788 Apr 25, 2020 (154)
24 SGDP_PRJ NC_000001.10 - 657788 Apr 25, 2020 (154)
25 8.3KJPN NC_000001.10 - 657788 Apr 25, 2021 (155)
26 TopMed NC_000001.11 - 722408 Apr 25, 2021 (155)
27 ALFA NC_000001.11 - 722408 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).

Associated ID History Updated (Build)
rs760310201 Jul 19, 2016 (147)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1358233, 9299, 725, 1439, 9531, 16219, ss1573850999, ss1713846966, ss1917959509, ss1997003710, ss2019498147, ss2697373890, ss2750628189, ss2986146764, ss3726715860, ss3847992551, ss3892831905, ss5142046912 NC_000001.10:657787:G:C NC_000001.11:722407:G:C (self)
46239, 21941, 8307953925, ss3066378895, ss3646581039, ss4436415606 NC_000001.11:722407:G:C NC_000001.11:722407:G:C (self)
ss131805163 NT_004350.19:136419:G:C NC_000001.11:722407:G:C (self)
ss2986146765 NC_000001.10:657787:G:T NC_000001.11:722407:G:T (self)
8307953925 NC_000001.11:722407:G:T NC_000001.11:722407:G:T
ss143563037 NT_004350.19:136419:G:T NC_000001.11:722407: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 rs75935175

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