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dbSNP Short Genetic Variations

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.

rs850543

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr7:145700776 (GRCh38.p12) 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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.24086 (30244/125568, TOPMED)
G=0.2375 (7448/31354, GnomAD)
G=0.205 (1028/5008, 1000G) (+ 5 more)
G=0.221 (990/4480, Estonian)
G=0.225 (868/3854, ALSPAC)
G=0.228 (847/3708, TWINSUK)
G=0.22 (133/600, NorthernSweden)
G=0.00 (1/214, Vietnamese)
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.p12 chr 7 NC_000007.14:g.145700776T>G
GRCh37.p13 chr 7 NC_000007.13:g.145397869T>G
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

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
TopMed Global Study-wide 125568 T=0.75914 G=0.24086
gnomAD - Genomes Global Study-wide 31354 T=0.7625 G=0.2375
gnomAD - Genomes European Sub 18888 T=0.7759 G=0.2241
gnomAD - Genomes African Sub 8684 T=0.683 G=0.317
gnomAD - Genomes East Asian Sub 1558 T=0.998 G=0.002
gnomAD - Genomes Other Sub 1088 T=0.770 G=0.230
gnomAD - Genomes American Sub 846 T=0.86 G=0.14
gnomAD - Genomes Ashkenazi Jewish Sub 290 T=0.69 G=0.31
1000Genomes Global Study-wide 5008 T=0.795 G=0.205
1000Genomes African Sub 1322 T=0.672 G=0.328
1000Genomes East Asian Sub 1008 T=0.997 G=0.003
1000Genomes Europe Sub 1006 T=0.746 G=0.254
1000Genomes South Asian Sub 978 T=0.78 G=0.22
1000Genomes American Sub 694 T=0.82 G=0.18
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.779 G=0.221
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.775 G=0.225
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.772 G=0.228
Northern Sweden ACPOP Study-wide 600 T=0.78 G=0.22
A Vietnamese Genetic Variation Database Global Study-wide 214 T=1.00 G=0.00
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= G Note
GRCh38.p12 chr 7 NC_000007.14:g.145700776= NC_000007.14:g.14570077...

NC_000007.14:g.145700776T>G

GRCh37.p13 chr 7 NC_000007.13:g.145397869= NC_000007.13:g.14539786...

NC_000007.13:g.145397869T>G

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#.

50 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss1221441 Oct 05, 2000 (86)
2 KWOK ss1741490 Oct 18, 2000 (87)
3 SC_JCM ss2458067 Nov 09, 2000 (123)
4 BCMHGSC_JDW ss93783647 Mar 25, 2008 (129)
5 1000GENOMES ss112611410 Jan 25, 2009 (130)
6 1000GENOMES ss114586107 Jan 25, 2009 (130)
7 ILLUMINA-UK ss116363790 Feb 14, 2009 (130)
8 ENSEMBL ss143051391 Dec 01, 2009 (131)
9 COMPLETE_GENOMICS ss165604697 Jul 04, 2010 (132)
10 BUSHMAN ss198433763 Jul 04, 2010 (132)
11 BCM-HGSC-SUB ss208145464 Jul 04, 2010 (132)
12 1000GENOMES ss223390469 Jul 14, 2010 (132)
13 1000GENOMES ss234209335 Jul 15, 2010 (132)
14 ILLUMINA ss479946505 May 04, 2012 (137)
15 ILLUMINA ss485369705 May 04, 2012 (137)
16 ILLUMINA ss533415292 Sep 08, 2015 (146)
17 TISHKOFF ss560372057 Apr 25, 2013 (138)
18 SSMP ss654785185 Apr 25, 2013 (138)
19 ILLUMINA ss779681660 Aug 21, 2014 (142)
20 ILLUMINA ss781108270 Aug 21, 2014 (142)
21 ILLUMINA ss835155357 Aug 21, 2014 (142)
22 EVA-GONL ss984914997 Aug 21, 2014 (142)
23 JMKIDD_LAB ss1075067646 Aug 21, 2014 (142)
24 1000GENOMES ss1327580175 Aug 21, 2014 (142)
25 DDI ss1431313932 Apr 01, 2015 (144)
26 EVA_GENOME_DK ss1582446641 Apr 01, 2015 (144)
27 EVA_DECODE ss1594504862 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1619452940 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1662446973 Apr 01, 2015 (144)
30 HAMMER_LAB ss1805272655 Sep 08, 2015 (146)
31 WEILL_CORNELL_DGM ss1928173089 Feb 12, 2016 (147)
32 JJLAB ss2024776295 Sep 14, 2016 (149)
33 USC_VALOUEV ss2153000385 Dec 20, 2016 (150)
34 HUMAN_LONGEVITY ss2298766377 Dec 20, 2016 (150)
35 TOPMED ss2468276888 Dec 20, 2016 (150)
36 ILLUMINA ss2634673880 Nov 08, 2017 (151)
37 GRF ss2708725022 Nov 08, 2017 (151)
38 GNOMAD ss2860397427 Nov 08, 2017 (151)
39 SWEGEN ss3002227800 Nov 08, 2017 (151)
40 BIOINF_KMB_FNS_UNIBA ss3026177660 Nov 08, 2017 (151)
41 CSHL ss3347896959 Nov 08, 2017 (151)
42 TOPMED ss3547394297 Nov 08, 2017 (151)
43 ILLUMINA ss3629938806 Oct 12, 2018 (152)
44 ILLUMINA ss3632577456 Oct 12, 2018 (152)
45 ILLUMINA ss3642595541 Oct 12, 2018 (152)
46 EGCUT_WGS ss3669972244 Jul 13, 2019 (153)
47 EVA_DECODE ss3720913120 Jul 13, 2019 (153)
48 ACPOP ss3735167498 Jul 13, 2019 (153)
49 EVA ss3767296030 Jul 13, 2019 (153)
50 KHV_HUMAN_GENOMES ss3810459767 Jul 13, 2019 (153)
51 1000Genomes NC_000007.13 - 145397869 Oct 12, 2018 (152)
52 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 145397869 Oct 12, 2018 (152)
53 Genetic variation in the Estonian population NC_000007.13 - 145397869 Oct 12, 2018 (152)
54 gnomAD - Genomes NC_000007.13 - 145397869 Jul 13, 2019 (153)
55 Northern Sweden NC_000007.13 - 145397869 Jul 13, 2019 (153)
56 TopMed NC_000007.14 - 145700776 Oct 12, 2018 (152)
57 UK 10K study - Twins NC_000007.13 - 145397869 Oct 12, 2018 (152)
58 A Vietnamese Genetic Variation Database NC_000007.13 - 145397869 Jul 13, 2019 (153)
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)
rs1638773 Oct 08, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss93783647, ss112611410, ss114586107, ss116363790, ss165604697, ss198433763, ss208145464, ss485369705, ss1594504862 NC_000007.12:145028801:T:G NC_000007.14:145700775:T:G (self)
39640449, 22062059, 15710492, 108369196, 8452363, 22062059, 4911197, ss223390469, ss234209335, ss479946505, ss533415292, ss560372057, ss654785185, ss779681660, ss781108270, ss835155357, ss984914997, ss1075067646, ss1327580175, ss1431313932, ss1582446641, ss1619452940, ss1662446973, ss1805272655, ss1928173089, ss2024776295, ss2153000385, ss2468276888, ss2634673880, ss2708725022, ss2860397427, ss3002227800, ss3347896959, ss3629938806, ss3632577456, ss3642595541, ss3669972244, ss3735167498, ss3767296030 NC_000007.13:145397868:T:G NC_000007.14:145700775:T:G (self)
378296212, ss2298766377, ss3026177660, ss3547394297, ss3720913120, ss3810459767 NC_000007.14:145700775:T:G NC_000007.14:145700775:T:G (self)
ss1221441, ss1741490, ss2458067, ss143051391 NT_007914.15:5993491:T:G NC_000007.14:145700775:T:G (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 rs850543

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.post270+ab078da