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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.

rs753646

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:211512779 (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>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.470124 (124437/264690, TOPMED)
G=0.479473 (81962/170942, ALFA)
G=0.44245 (34821/78700, PAGE_STUDY) (+ 16 more)
G=0.20382 (3416/16760, 8.3KJPN)
G=0.4022 (2014/5008, 1000G)
G=0.4621 (2070/4480, Estonian)
G=0.4805 (1852/3854, ALSPAC)
G=0.4873 (1807/3708, TWINSUK)
G=0.1208 (354/2930, KOREAN)
G=0.1152 (211/1832, Korea1K)
A=0.490 (489/998, GoNL)
G=0.145 (114/788, PRJEB37584)
G=0.417 (250/600, NorthernSweden)
G=0.233 (111/476, SGDP_PRJ)
G=0.476 (156/328, HapMap)
G=0.468 (101/216, Qatari)
G=0.126 (27/214, Vietnamese)
G=0.24 (11/46, Siberian)
A=0.45 (18/40, 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.211512779G>A
GRCh38.p13 chr 1 NC_000001.11:g.211512779G>C
GRCh37.p13 chr 1 NC_000001.10:g.211686121G>A
GRCh37.p13 chr 1 NC_000001.10:g.211686121G>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 170942 G=0.479473 A=0.520527, C=0.000000
European Sub 152388 G=0.481337 A=0.518663, C=0.000000
African Sub 4322 G=0.6020 A=0.3980, C=0.0000
African Others Sub 152 G=0.632 A=0.368, C=0.000
African American Sub 4170 G=0.6010 A=0.3990, C=0.0000
Asian Sub 602 G=0.163 A=0.837, C=0.000
East Asian Sub 490 G=0.153 A=0.847, C=0.000
Other Asian Sub 112 G=0.205 A=0.795, C=0.000
Latin American 1 Sub 628 G=0.490 A=0.510, C=0.000
Latin American 2 Sub 5728 G=0.3921 A=0.6079, C=0.0000
South Asian Sub 120 G=0.633 A=0.367, C=0.000
Other Sub 7154 G=0.4588 A=0.5412, C=0.0000


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=0.470124 A=0.529876
The PAGE Study Global Study-wide 78700 G=0.44245 A=0.55755
The PAGE Study AfricanAmerican Sub 32516 G=0.53488 A=0.46512
The PAGE Study Mexican Sub 10810 G=0.39103 A=0.60897
The PAGE Study Asian Sub 8318 G=0.2011 A=0.7989
The PAGE Study PuertoRican Sub 7918 G=0.4654 A=0.5346
The PAGE Study NativeHawaiian Sub 4534 G=0.2506 A=0.7494
The PAGE Study Cuban Sub 4230 G=0.4863 A=0.5137
The PAGE Study Dominican Sub 3828 G=0.4864 A=0.5136
The PAGE Study CentralAmerican Sub 2450 G=0.4347 A=0.5653
The PAGE Study SouthAmerican Sub 1980 G=0.3904 A=0.6096
The PAGE Study NativeAmerican Sub 1260 G=0.4714 A=0.5286
The PAGE Study SouthAsian Sub 856 G=0.417 A=0.583
8.3KJPN JAPANESE Study-wide 16760 G=0.20382 A=0.79618
1000Genomes Global Study-wide 5008 G=0.4022 A=0.5978
1000Genomes African Sub 1322 G=0.5643 A=0.4357
1000Genomes East Asian Sub 1008 G=0.1190 A=0.8810
1000Genomes Europe Sub 1006 G=0.4463 A=0.5537
1000Genomes South Asian Sub 978 G=0.427 A=0.573
1000Genomes American Sub 694 G=0.405 A=0.595
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4621 A=0.5379
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4805 A=0.5195
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4873 A=0.5127
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1208 A=0.8792, C=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.1152 A=0.8848
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.510 A=0.490
CNV burdens in cranial meningiomas Global Study-wide 788 G=0.145 A=0.855
CNV burdens in cranial meningiomas CRM Sub 788 G=0.145 A=0.855
Northern Sweden ACPOP Study-wide 600 G=0.417 A=0.583
SGDP_PRJ Global Study-wide 476 G=0.233 A=0.767
HapMap Global Study-wide 328 G=0.476 A=0.524
HapMap African Sub 120 G=0.667 A=0.333
HapMap American Sub 120 G=0.517 A=0.483
HapMap Asian Sub 88 G=0.16 A=0.84
Qatari Global Study-wide 216 G=0.468 A=0.532
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.126 A=0.874
Siberian Global Study-wide 46 G=0.24 A=0.76
The Danish reference pan genome Danish Study-wide 40 G=0.55 A=0.45
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= A C
GRCh38.p13 chr 1 NC_000001.11:g.211512779= NC_000001.11:g.211512779G>A NC_000001.11:g.211512779G>C
GRCh37.p13 chr 1 NC_000001.10:g.211686121= NC_000001.10:g.211686121G>A NC_000001.10:g.211686121G>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#.

108 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss107075 Oct 05, 2000 (86)
2 CSHL-HAPMAP ss16390395 Feb 27, 2004 (120)
3 SSAHASNP ss20487692 Apr 05, 2004 (121)
4 ABI ss43903743 Mar 13, 2006 (126)
5 ILLUMINA ss65719987 Oct 16, 2006 (127)
6 CSHL-HAPMAP ss68370969 Jan 12, 2007 (127)
7 HGSV ss77632279 Dec 06, 2007 (129)
8 BCMHGSC_JDW ss87958630 Mar 23, 2008 (129)
9 HUMANGENOME_JCVI ss99284475 Feb 05, 2009 (130)
10 BGI ss106629445 Feb 05, 2009 (130)
11 1000GENOMES ss108918536 Jan 23, 2009 (130)
12 1000GENOMES ss111721469 Jan 25, 2009 (130)
13 ILLUMINA-UK ss119196260 Feb 15, 2009 (130)
14 ILLUMINA ss120244556 Dec 01, 2009 (131)
15 ENSEMBL ss138148012 Dec 01, 2009 (131)
16 ENSEMBL ss139080508 Dec 01, 2009 (131)
17 GMI ss156243766 Dec 01, 2009 (131)
18 ILLUMINA ss160885705 Dec 01, 2009 (131)
19 COMPLETE_GENOMICS ss165066675 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss167480742 Jul 04, 2010 (132)
21 BUSHMAN ss199566657 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss205277981 Jul 04, 2010 (132)
23 1000GENOMES ss218862303 Jul 14, 2010 (132)
24 1000GENOMES ss230886700 Jul 14, 2010 (132)
25 1000GENOMES ss238502540 Jul 15, 2010 (132)
26 ILLUMINA ss244255536 Jul 04, 2010 (132)
27 GMI ss276203664 May 04, 2012 (137)
28 GMI ss284222185 Apr 25, 2013 (138)
29 PJP ss290726744 May 09, 2011 (134)
30 ILLUMINA ss410949611 Sep 17, 2011 (135)
31 ILLUMINA ss481585611 May 04, 2012 (137)
32 ILLUMINA ss481615512 May 04, 2012 (137)
33 ILLUMINA ss482586062 Sep 08, 2015 (146)
34 ILLUMINA ss485587764 May 04, 2012 (137)
35 ILLUMINA ss537479156 Sep 08, 2015 (146)
36 TISHKOFF ss555116496 Apr 25, 2013 (138)
37 SSMP ss648674492 Apr 25, 2013 (138)
38 ILLUMINA ss778605301 Sep 08, 2015 (146)
39 ILLUMINA ss783239489 Sep 08, 2015 (146)
40 ILLUMINA ss784193360 Sep 08, 2015 (146)
41 ILLUMINA ss832500036 Sep 08, 2015 (146)
42 ILLUMINA ss834062640 Sep 08, 2015 (146)
43 EVA-GONL ss976104789 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1068572345 Aug 21, 2014 (142)
45 1000GENOMES ss1294503535 Aug 21, 2014 (142)
46 DDI ss1426099976 Apr 01, 2015 (144)
47 EVA_GENOME_DK ss1574653189 Apr 01, 2015 (144)
48 EVA_DECODE ss1585500636 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1602061094 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1645055127 Apr 01, 2015 (144)
51 ILLUMINA ss1751896567 Sep 08, 2015 (146)
52 HAMMER_LAB ss1795679778 Sep 08, 2015 (146)
53 WEILL_CORNELL_DGM ss1919330212 Feb 12, 2016 (147)
54 ILLUMINA ss1946022375 Feb 12, 2016 (147)
55 ILLUMINA ss1958354399 Feb 12, 2016 (147)
56 GENOMED ss1966964040 Jul 19, 2016 (147)
57 JJLAB ss2020187028 Sep 14, 2016 (149)
58 USC_VALOUEV ss2148217147 Dec 20, 2016 (150)
59 HUMAN_LONGEVITY ss2169782911 Dec 20, 2016 (150)
60 TOPMED ss2332395981 Dec 20, 2016 (150)
61 SYSTEMSBIOZJU ss2624603145 Nov 08, 2017 (151)
62 ILLUMINA ss2632624759 Nov 08, 2017 (151)
63 GRF ss2698210531 Nov 08, 2017 (151)
64 ILLUMINA ss2710693320 Nov 08, 2017 (151)
65 GNOMAD ss2765801877 Nov 08, 2017 (151)
66 SWEGEN ss2988389530 Nov 08, 2017 (151)
67 ILLUMINA ss3021176853 Nov 08, 2017 (151)
68 BIOINF_KMB_FNS_UNIBA ss3023853389 Nov 08, 2017 (151)
69 TOPMED ss3102448216 Nov 08, 2017 (151)
70 CSHL ss3343894274 Nov 08, 2017 (151)
71 ILLUMINA ss3625560668 Oct 11, 2018 (152)
72 ILLUMINA ss3626300119 Oct 11, 2018 (152)
73 ILLUMINA ss3630654848 Oct 11, 2018 (152)
74 ILLUMINA ss3632924170 Oct 11, 2018 (152)
75 ILLUMINA ss3633620153 Oct 11, 2018 (152)
76 ILLUMINA ss3634371159 Oct 11, 2018 (152)
77 ILLUMINA ss3635313282 Oct 11, 2018 (152)
78 ILLUMINA ss3636049997 Oct 11, 2018 (152)
79 ILLUMINA ss3637063818 Oct 11, 2018 (152)
80 ILLUMINA ss3640078513 Oct 11, 2018 (152)
81 ILLUMINA ss3640991692 Oct 11, 2018 (152)
82 ILLUMINA ss3641285801 Oct 11, 2018 (152)
83 ILLUMINA ss3644518375 Oct 11, 2018 (152)
84 URBANLAB ss3646878850 Oct 11, 2018 (152)
85 ILLUMINA ss3651520931 Oct 11, 2018 (152)
86 EGCUT_WGS ss3656348583 Jul 12, 2019 (153)
87 EVA_DECODE ss3688558177 Jul 12, 2019 (153)
88 ILLUMINA ss3725102575 Jul 12, 2019 (153)
89 ACPOP ss3727829890 Jul 12, 2019 (153)
90 ILLUMINA ss3744060125 Jul 12, 2019 (153)
91 ILLUMINA ss3744672036 Jul 12, 2019 (153)
92 EVA ss3747290107 Jul 12, 2019 (153)
93 PAGE_CC ss3770869599 Jul 12, 2019 (153)
94 ILLUMINA ss3772172934 Jul 12, 2019 (153)
95 PACBIO ss3783677844 Jul 12, 2019 (153)
96 PACBIO ss3789291724 Jul 12, 2019 (153)
97 PACBIO ss3794164009 Jul 12, 2019 (153)
98 KHV_HUMAN_GENOMES ss3800295035 Jul 12, 2019 (153)
99 EVA ss3826624287 Apr 25, 2020 (154)
100 EVA ss3836712839 Apr 25, 2020 (154)
101 EVA ss3842124438 Apr 25, 2020 (154)
102 SGDP_PRJ ss3850822161 Apr 25, 2020 (154)
103 KRGDB ss3896128952 Apr 25, 2020 (154)
104 KOGIC ss3946421743 Apr 25, 2020 (154)
105 EVA ss3984471401 Apr 25, 2021 (155)
106 EVA ss4016960048 Apr 25, 2021 (155)
107 TOPMED ss4482281605 Apr 25, 2021 (155)
108 TOMMO_GENOMICS ss5148267515 Apr 25, 2021 (155)
109 1000Genomes NC_000001.10 - 211686121 Oct 11, 2018 (152)
110 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 211686121 Oct 11, 2018 (152)
111 Genetic variation in the Estonian population NC_000001.10 - 211686121 Oct 11, 2018 (152)
112 The Danish reference pan genome NC_000001.10 - 211686121 Apr 25, 2020 (154)
113 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 38518567 (NC_000001.11:211512778:G:A 72978/139994)
Row 38518568 (NC_000001.11:211512778:G:C 1/140078)

- Apr 25, 2021 (155)
114 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 38518567 (NC_000001.11:211512778:G:A 72978/139994)
Row 38518568 (NC_000001.11:211512778:G:C 1/140078)

- Apr 25, 2021 (155)
115 Genome of the Netherlands Release 5 NC_000001.10 - 211686121 Apr 25, 2020 (154)
116 HapMap NC_000001.11 - 211512779 Apr 25, 2020 (154)
117 KOREAN population from KRGDB NC_000001.10 - 211686121 Apr 25, 2020 (154)
118 Korean Genome Project NC_000001.11 - 211512779 Apr 25, 2020 (154)
119 Northern Sweden NC_000001.10 - 211686121 Jul 12, 2019 (153)
120 The PAGE Study NC_000001.11 - 211512779 Jul 12, 2019 (153)
121 CNV burdens in cranial meningiomas NC_000001.10 - 211686121 Apr 25, 2021 (155)
122 Qatari NC_000001.10 - 211686121 Apr 25, 2020 (154)
123 SGDP_PRJ NC_000001.10 - 211686121 Apr 25, 2020 (154)
124 Siberian NC_000001.10 - 211686121 Apr 25, 2020 (154)
125 8.3KJPN NC_000001.10 - 211686121 Apr 25, 2021 (155)
126 TopMed NC_000001.11 - 211512779 Apr 25, 2021 (155)
127 UK 10K study - Twins NC_000001.10 - 211686121 Oct 11, 2018 (152)
128 A Vietnamese Genetic Variation Database NC_000001.10 - 211686121 Jul 12, 2019 (153)
129 ALFA NC_000001.11 - 211512779 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)
rs386611129 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77632279 NC_000001.8:208074515:G:A NC_000001.11:211512778:G:A (self)
ss87958630, ss108918536, ss111721469, ss119196260, ss165066675, ss167480742, ss199566657, ss205277981, ss276203664, ss284222185, ss290726744, ss481585611, ss1585500636 NC_000001.9:209752743:G:A NC_000001.11:211512778:G:A (self)
5352681, 2952352, 2086831, 1869122, 1289015, 3306346, 1114755, 20720, 1372142, 2839141, 733501, 6236822, 2952352, 637843, ss218862303, ss230886700, ss238502540, ss481615512, ss482586062, ss485587764, ss537479156, ss555116496, ss648674492, ss778605301, ss783239489, ss784193360, ss832500036, ss834062640, ss976104789, ss1068572345, ss1294503535, ss1426099976, ss1574653189, ss1602061094, ss1645055127, ss1751896567, ss1795679778, ss1919330212, ss1946022375, ss1958354399, ss1966964040, ss2020187028, ss2148217147, ss2332395981, ss2624603145, ss2632624759, ss2698210531, ss2710693320, ss2765801877, ss2988389530, ss3021176853, ss3343894274, ss3625560668, ss3626300119, ss3630654848, ss3632924170, ss3633620153, ss3634371159, ss3635313282, ss3636049997, ss3637063818, ss3640078513, ss3640991692, ss3641285801, ss3644518375, ss3651520931, ss3656348583, ss3727829890, ss3744060125, ss3744672036, ss3747290107, ss3772172934, ss3783677844, ss3789291724, ss3794164009, ss3826624287, ss3836712839, ss3850822161, ss3896128952, ss3984471401, ss4016960048, ss5148267515 NC_000001.10:211686120:G:A NC_000001.11:211512778:G:A (self)
259466, 2799744, 91068, 28829651, 45887940, 4785324049, ss2169782911, ss3023853389, ss3102448216, ss3646878850, ss3688558177, ss3725102575, ss3770869599, ss3800295035, ss3842124438, ss3946421743, ss4482281605 NC_000001.11:211512778:G:A NC_000001.11:211512778:G:A (self)
ss16390395, ss20487692 NT_021877.16:5144916:G:A NC_000001.11:211512778:G:A (self)
ss107075, ss43903743, ss65719987, ss68370969, ss99284475, ss106629445, ss120244556, ss138148012, ss139080508, ss156243766, ss160885705, ss244255536, ss410949611 NT_167186.1:5203899:G:A NC_000001.11:211512778:G:A (self)
3306346, ss3896128952 NC_000001.10:211686120:G:C NC_000001.11:211512778:G:C (self)
4785324049 NC_000001.11:211512778:G:C NC_000001.11:211512778:G:C
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 rs753646

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