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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.

rs35731908

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:144510431 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000434 (115/264690, TOPMED)
G=0.000112 (28/250332, GnomAD_exome)
G=0.000371 (52/140250, GnomAD) (+ 8 more)
G=0.000108 (13/120140, ExAC)
G=0.00078 (61/77978, PAGE_STUDY)
G=0.00023 (10/44182, ALFA)
T=0.00004 (1/28258, 14KJPN)
G=0.00023 (3/13002, GO-ESP)
G=0.0003 (2/6404, 1000G_30x)
G=0.0002 (1/5008, 1000G)
G=0.002 (1/534, MGP)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MFSD3 : 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 44182 C=0.99977 G=0.00023
European Sub 32454 C=1.00000 G=0.00000
African Sub 3512 C=0.9991 G=0.0009
African Others Sub 122 C=1.000 G=0.000
African American Sub 3390 C=0.9991 G=0.0009
Asian Sub 168 C=1.000 G=0.000
East Asian Sub 112 C=1.000 G=0.000
Other Asian Sub 56 C=1.00 G=0.00
Latin American 1 Sub 496 C=0.994 G=0.006
Latin American 2 Sub 628 C=1.000 G=0.000
South Asian Sub 98 C=1.00 G=0.00
Other Sub 6826 C=0.9994 G=0.0006


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 C=0.999566 G=0.000434
gnomAD - Exomes Global Study-wide 250332 C=0.999888 G=0.000112
gnomAD - Exomes European Sub 134482 C=0.999941 G=0.000059
gnomAD - Exomes Asian Sub 48996 C=1.00000 G=0.00000
gnomAD - Exomes American Sub 34566 C=0.99980 G=0.00020
gnomAD - Exomes African Sub 16158 C=0.99938 G=0.00062
gnomAD - Exomes Ashkenazi Jewish Sub 10014 C=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6116 C=0.9995 G=0.0005
gnomAD - Genomes Global Study-wide 140250 C=0.999629 G=0.000371
gnomAD - Genomes European Sub 75942 C=0.99992 G=0.00008
gnomAD - Genomes African Sub 42042 C=0.99902 G=0.00098
gnomAD - Genomes American Sub 13656 C=0.99963 G=0.00037
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
ExAC Global Study-wide 120140 C=0.999892 G=0.000108
ExAC Europe Sub 72290 C=0.99994 G=0.00006
ExAC Asian Sub 25142 C=1.00000 G=0.00000
ExAC American Sub 11554 C=0.99974 G=0.00026
ExAC African Sub 10262 C=0.99942 G=0.00058
ExAC Other Sub 892 C=1.000 G=0.000
The PAGE Study Global Study-wide 77978 C=0.99922 G=0.00078
The PAGE Study AfricanAmerican Sub 32074 C=0.99910 G=0.00090
The PAGE Study Mexican Sub 10774 C=0.99991 G=0.00009
The PAGE Study Asian Sub 8218 C=0.9999 G=0.0001
The PAGE Study PuertoRican Sub 7890 C=0.9995 G=0.0005
The PAGE Study NativeHawaiian Sub 4468 C=0.9998 G=0.0002
The PAGE Study Cuban Sub 4220 C=0.9983 G=0.0017
The PAGE Study Dominican Sub 3818 C=0.9955 G=0.0045
The PAGE Study CentralAmerican Sub 2442 C=1.0000 G=0.0000
The PAGE Study SouthAmerican Sub 1980 C=1.0000 G=0.0000
The PAGE Study NativeAmerican Sub 1256 C=0.9992 G=0.0008
The PAGE Study SouthAsian Sub 838 C=1.000 G=0.000
Allele Frequency Aggregator Total Global 44182 C=0.99977 G=0.00023
Allele Frequency Aggregator European Sub 32454 C=1.00000 G=0.00000
Allele Frequency Aggregator Other Sub 6826 C=0.9994 G=0.0006
Allele Frequency Aggregator African Sub 3512 C=0.9991 G=0.0009
Allele Frequency Aggregator Latin American 2 Sub 628 C=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 496 C=0.994 G=0.006
Allele Frequency Aggregator Asian Sub 168 C=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 G=0.00
14KJPN JAPANESE Study-wide 28258 C=0.99996 T=0.00004
GO Exome Sequencing Project Global Study-wide 13002 C=0.99977 G=0.00023
GO Exome Sequencing Project European American Sub 8598 C=1.0000 G=0.0000
GO Exome Sequencing Project African American Sub 4404 C=0.9993 G=0.0007
1000Genomes_30x Global Study-wide 6404 C=0.9997 G=0.0003
1000Genomes_30x African Sub 1786 C=1.0000 G=0.0000
1000Genomes_30x Europe Sub 1266 C=1.0000 G=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 G=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 G=0.0000
1000Genomes_30x American Sub 980 C=0.998 G=0.002
1000Genomes Global Study-wide 5008 C=0.9998 G=0.0002
1000Genomes African Sub 1322 C=1.0000 G=0.0000
1000Genomes East Asian Sub 1008 C=1.0000 G=0.0000
1000Genomes Europe Sub 1006 C=1.0000 G=0.0000
1000Genomes South Asian Sub 978 C=1.000 G=0.000
1000Genomes American Sub 694 C=0.999 G=0.001
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.998 G=0.002
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 8 NC_000008.11:g.144510431C>G
GRCh38.p14 chr 8 NC_000008.11:g.144510431C>T
GRCh37.p13 chr 8 NC_000008.10:g.145735814C>G
GRCh37.p13 chr 8 NC_000008.10:g.145735814C>T
RECQL4 RefSeqGene (LRG_277) NG_016430.2:g.12396G>C
RECQL4 RefSeqGene (LRG_277) NG_016430.2:g.12396G>A
Gene: MFSD3, major facilitator superfamily domain containing 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MFSD3 transcript variant 1 NM_138431.3:c.754C>G L [CTG] > V [GTG] Coding Sequence Variant
major facilitator superfamily domain-containing protein 3 NP_612440.1:p.Leu252Val L (Leu) > V (Val) Missense Variant
MFSD3 transcript variant 1 NM_138431.3:c.754C>T L [CTG] > L [TTG] Coding Sequence Variant
major facilitator superfamily domain-containing protein 3 NP_612440.1:p.Leu252= L (Leu) > L (Leu) Synonymous Variant
MFSD3 transcript variant 2 NR_130120.2:n. N/A Intron Variant
MFSD3 transcript variant X1 XM_017013005.2:c.754C>G L [CTG] > V [GTG] Coding Sequence Variant
major facilitator superfamily domain-containing protein 3 isoform X1 XP_016868494.1:p.Leu252Val L (Leu) > V (Val) Missense Variant
MFSD3 transcript variant X1 XM_017013005.2:c.754C>T L [CTG] > L [TTG] Coding Sequence Variant
major facilitator superfamily domain-containing protein 3 isoform X1 XP_016868494.1:p.Leu252= L (Leu) > L (Leu) Synonymous Variant
MFSD3 transcript variant X2 XM_011516806.3:c.746C>G T [ACT] > S [AGT] Coding Sequence Variant
major facilitator superfamily domain-containing protein 3 isoform X2 XP_011515108.1:p.Thr249Ser T (Thr) > S (Ser) Missense Variant
MFSD3 transcript variant X2 XM_011516806.3:c.746C>T T [ACT] > I [ATT] Coding Sequence Variant
major facilitator superfamily domain-containing protein 3 isoform X2 XP_011515108.1:p.Thr249Ile T (Thr) > I (Ile) 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= G T
GRCh38.p14 chr 8 NC_000008.11:g.144510431= NC_000008.11:g.144510431C>G NC_000008.11:g.144510431C>T
GRCh37.p13 chr 8 NC_000008.10:g.145735814= NC_000008.10:g.145735814C>G NC_000008.10:g.145735814C>T
RECQL4 RefSeqGene (LRG_277) NG_016430.2:g.12396= NG_016430.2:g.12396G>C NG_016430.2:g.12396G>A
MFSD3 transcript variant 1 NM_138431.3:c.754= NM_138431.3:c.754C>G NM_138431.3:c.754C>T
MFSD3 transcript variant 1 NM_138431.2:c.754= NM_138431.2:c.754C>G NM_138431.2:c.754C>T
MFSD3 transcript NM_138431.1:c.754= NM_138431.1:c.754C>G NM_138431.1:c.754C>T
MFSD3 transcript variant X2 XM_011516806.3:c.746= XM_011516806.3:c.746C>G XM_011516806.3:c.746C>T
MFSD3 transcript variant X2 XM_011516806.2:c.746= XM_011516806.2:c.746C>G XM_011516806.2:c.746C>T
MFSD3 transcript variant X1 XM_011516806.1:c.746= XM_011516806.1:c.746C>G XM_011516806.1:c.746C>T
MFSD3 transcript variant X1 XM_017013005.2:c.754= XM_017013005.2:c.754C>G XM_017013005.2:c.754C>T
MFSD3 transcript variant X1 XM_017013005.1:c.754= XM_017013005.1:c.754C>G XM_017013005.1:c.754C>T
major facilitator superfamily domain-containing protein 3 NP_612440.1:p.Leu252= NP_612440.1:p.Leu252Val NP_612440.1:p.Leu252=
major facilitator superfamily domain-containing protein 3 isoform X2 XP_011515108.1:p.Thr249= XP_011515108.1:p.Thr249Ser XP_011515108.1:p.Thr249Ile
major facilitator superfamily domain-containing protein 3 isoform X1 XP_016868494.1:p.Leu252= XP_016868494.1:p.Leu252Val XP_016868494.1:p.Leu252=
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#.

41 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 EGP_SNPS ss48298190 Mar 15, 2006 (126)
2 NHLBI-ESP ss342267526 May 09, 2011 (134)
3 1000GENOMES ss488900404 May 04, 2012 (137)
4 EXOME_CHIP ss491419310 May 04, 2012 (137)
5 ILLUMINA ss780874302 Aug 21, 2014 (142)
6 ILLUMINA ss783559701 Aug 21, 2014 (142)
7 1000GENOMES ss1332451491 Aug 21, 2014 (142)
8 EVA_EXAC ss1689383427 Apr 01, 2015 (144)
9 EVA_MGP ss1711213601 Apr 01, 2015 (144)
10 ILLUMINA ss1752719726 Sep 08, 2015 (146)
11 ILLUMINA ss1917833633 Feb 12, 2016 (147)
12 ILLUMINA ss1946250605 Feb 12, 2016 (147)
13 ILLUMINA ss1959156570 Feb 12, 2016 (147)
14 HUMAN_LONGEVITY ss2308491473 Dec 20, 2016 (150)
15 GNOMAD ss2737450764 Nov 08, 2017 (151)
16 GNOMAD ss2748138173 Nov 08, 2017 (151)
17 GNOMAD ss2874183958 Nov 08, 2017 (151)
18 AFFY ss2985452898 Nov 08, 2017 (151)
19 ILLUMINA ss3022897977 Nov 08, 2017 (151)
20 ILLUMINA ss3630188467 Oct 12, 2018 (152)
21 ILLUMINA ss3635197304 Oct 12, 2018 (152)
22 ILLUMINA ss3640904595 Oct 12, 2018 (152)
23 ILLUMINA ss3644983870 Oct 12, 2018 (152)
24 ILLUMINA ss3653446096 Oct 12, 2018 (152)
25 ILLUMINA ss3654216810 Oct 12, 2018 (152)
26 ILLUMINA ss3726584211 Jul 13, 2019 (153)
27 ILLUMINA ss3744585453 Jul 13, 2019 (153)
28 ILLUMINA ss3745497249 Jul 13, 2019 (153)
29 PAGE_CC ss3771478694 Jul 13, 2019 (153)
30 ILLUMINA ss3772989390 Jul 13, 2019 (153)
31 EVA ss3824408809 Apr 26, 2020 (154)
32 TOPMED ss4808673824 Apr 26, 2021 (155)
33 1000G_HIGH_COVERAGE ss5279411196 Oct 16, 2022 (156)
34 EVA ss5385336387 Oct 16, 2022 (156)
35 HUGCELL_USP ss5475741838 Oct 16, 2022 (156)
36 1000G_HIGH_COVERAGE ss5570976674 Oct 16, 2022 (156)
37 TOMMO_GENOMICS ss5734504956 Oct 16, 2022 (156)
38 EVA ss5831409883 Oct 16, 2022 (156)
39 EVA ss5848195193 Oct 16, 2022 (156)
40 EVA ss5891575582 Oct 16, 2022 (156)
41 EVA ss5975946728 Oct 16, 2022 (156)
42 1000Genomes NC_000008.10 - 145735814 Oct 12, 2018 (152)
43 1000Genomes_30x NC_000008.11 - 144510431 Oct 16, 2022 (156)
44 ExAC NC_000008.10 - 145735814 Oct 12, 2018 (152)
45 gnomAD - Genomes NC_000008.11 - 144510431 Apr 26, 2021 (155)
46 gnomAD - Exomes NC_000008.10 - 145735814 Jul 13, 2019 (153)
47 GO Exome Sequencing Project NC_000008.10 - 145735814 Oct 12, 2018 (152)
48 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 145735814 Apr 26, 2020 (154)
49 The PAGE Study NC_000008.11 - 144510431 Jul 13, 2019 (153)
50 14KJPN NC_000008.11 - 144510431 Oct 16, 2022 (156)
51 TopMed NC_000008.11 - 144510431 Apr 26, 2021 (155)
52 ALFA NC_000008.11 - 144510431 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
44667694, 9498630, 6625774, 866627, 329361, ss342267526, ss488900404, ss491419310, ss780874302, ss783559701, ss1332451491, ss1689383427, ss1711213601, ss1752719726, ss1917833633, ss1946250605, ss1959156570, ss2737450764, ss2748138173, ss2874183958, ss2985452898, ss3022897977, ss3630188467, ss3635197304, ss3640904595, ss3644983870, ss3653446096, ss3654216810, ss3744585453, ss3745497249, ss3772989390, ss3824408809, ss5385336387, ss5831409883, ss5848195193, ss5975946728 NC_000008.10:145735813:C:G NC_000008.11:144510430:C:G (self)
58502609, 314935492, 700163, 646051384, 2258416543, ss2308491473, ss3726584211, ss3771478694, ss4808673824, ss5279411196, ss5475741838, ss5570976674, ss5891575582 NC_000008.11:144510430:C:G NC_000008.11:144510430:C:G (self)
ss48298190 NT_037704.5:303225:C:G NC_000008.11:144510430:C:G (self)
68342060, ss5734504956 NC_000008.11:144510430:C:T NC_000008.11:144510430:C:T
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 rs35731908

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