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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.

rs238722

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:3491324 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.271960 (71985/264690, TOPMED)
A=0.274840 (38443/139874, GnomAD)
A=0.26632 (18936/71102, ALFA) (+ 19 more)
A=0.07516 (2124/28258, 14KJPN)
A=0.07637 (1280/16760, 8.3KJPN)
A=0.1932 (1237/6404, 1000G_30x)
A=0.1881 (942/5008, 1000G)
A=0.2348 (1052/4480, Estonian)
A=0.2968 (1144/3854, ALSPAC)
A=0.2972 (1102/3708, TWINSUK)
A=0.0116 (34/2922, KOREAN)
A=0.1569 (327/2084, HGDP_Stanford)
A=0.1940 (367/1892, HapMap)
A=0.0126 (23/1832, Korea1K)
A=0.290 (289/998, GoNL)
A=0.223 (134/600, NorthernSweden)
A=0.227 (49/216, Qatari)
G=0.445 (49/110, SGDP_PRJ)
A=0.33 (28/84, Ancient Sardinia)
A=0.30 (12/40, GENOME_DK)
G=0.50 (11/22, Siberian)
A=0.50 (11/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ATRN : Intron 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 71102 G=0.73368 A=0.26632
European Sub 58774 G=0.72302 A=0.27698
African Sub 4502 G=0.6735 A=0.3265
African Others Sub 170 G=0.665 A=0.335
African American Sub 4332 G=0.6738 A=0.3262
Asian Sub 186 G=0.973 A=0.027
East Asian Sub 146 G=0.973 A=0.027
Other Asian Sub 40 G=0.97 A=0.03
Latin American 1 Sub 246 G=0.728 A=0.272
Latin American 2 Sub 1226 G=0.8189 A=0.1811
South Asian Sub 4956 G=0.8846 A=0.1154
Other Sub 1212 G=0.7351 A=0.2649


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=0.728040 A=0.271960
gnomAD - Genomes Global Study-wide 139874 G=0.725160 A=0.274840
gnomAD - Genomes European Sub 75798 G=0.73461 A=0.26539
gnomAD - Genomes African Sub 41842 G=0.67339 A=0.32661
gnomAD - Genomes American Sub 13634 G=0.76977 A=0.23023
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.7214 A=0.2786
gnomAD - Genomes East Asian Sub 3134 G=0.9927 A=0.0073
gnomAD - Genomes Other Sub 2146 G=0.7325 A=0.2675
Allele Frequency Aggregator Total Global 71102 G=0.73368 A=0.26632
Allele Frequency Aggregator European Sub 58774 G=0.72302 A=0.27698
Allele Frequency Aggregator South Asian Sub 4956 G=0.8846 A=0.1154
Allele Frequency Aggregator African Sub 4502 G=0.6735 A=0.3265
Allele Frequency Aggregator Latin American 2 Sub 1226 G=0.8189 A=0.1811
Allele Frequency Aggregator Other Sub 1212 G=0.7351 A=0.2649
Allele Frequency Aggregator Latin American 1 Sub 246 G=0.728 A=0.272
Allele Frequency Aggregator Asian Sub 186 G=0.973 A=0.027
14KJPN JAPANESE Study-wide 28258 G=0.92484 A=0.07516
8.3KJPN JAPANESE Study-wide 16760 G=0.92363 A=0.07637
1000Genomes_30x Global Study-wide 6404 G=0.8068 A=0.1932
1000Genomes_30x African Sub 1786 G=0.6786 A=0.3214
1000Genomes_30x Europe Sub 1266 G=0.7093 A=0.2907
1000Genomes_30x South Asian Sub 1202 G=0.9226 A=0.0774
1000Genomes_30x East Asian Sub 1170 G=0.9855 A=0.0145
1000Genomes_30x American Sub 980 G=0.811 A=0.189
1000Genomes Global Study-wide 5008 G=0.8119 A=0.1881
1000Genomes African Sub 1322 G=0.6800 A=0.3200
1000Genomes East Asian Sub 1008 G=0.9831 A=0.0169
1000Genomes Europe Sub 1006 G=0.7097 A=0.2903
1000Genomes South Asian Sub 978 G=0.923 A=0.077
1000Genomes American Sub 694 G=0.805 A=0.195
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7652 A=0.2348
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7032 A=0.2968
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7028 A=0.2972
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9884 A=0.0116
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.8431 A=0.1569
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.985 A=0.015
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.872 A=0.128
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.717 A=0.283
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.675 A=0.325
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.748 A=0.252
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.991 A=0.009
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.99 A=0.01
HapMap Global Study-wide 1892 G=0.8060 A=0.1940
HapMap American Sub 770 G=0.860 A=0.140
HapMap African Sub 692 G=0.720 A=0.280
HapMap Asian Sub 254 G=0.941 A=0.059
HapMap Europe Sub 176 G=0.716 A=0.284
Korean Genome Project KOREAN Study-wide 1832 G=0.9874 A=0.0126
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.710 A=0.290
Northern Sweden ACPOP Study-wide 600 G=0.777 A=0.223
Qatari Global Study-wide 216 G=0.773 A=0.227
SGDP_PRJ Global Study-wide 110 G=0.445 A=0.555
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 84 G=0.67 A=0.33
The Danish reference pan genome Danish Study-wide 40 G=0.70 A=0.30
Siberian Global Study-wide 22 G=0.50 A=0.50
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 20 NC_000020.11:g.3491324G>A
GRCh37.p13 chr 20 NC_000020.10:g.3471971G>A
ATRN RefSeqGene NG_029406.1:g.25307G>A
Gene: ATRN, attractin (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ATRN transcript variant 4 NM_001207047.3:c.62+20190…

NM_001207047.3:c.62+20190G>A

 		N/A Intron Variant
ATRN transcript variant 5 NM_001323332.2:c.410+1980…

NM_001323332.2:c.410+19807G>A

 		N/A Intron Variant
ATRN transcript variant 1 NM_139321.3:c.410+19807G>A N/A Intron Variant
ATRN transcript variant 2 NM_139322.4:c.410+19807G>A N/A Intron 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 G= A
GRCh38.p14 chr 20 NC_000020.11:g.3491324= NC_000020.11:g.3491324G>A
GRCh37.p13 chr 20 NC_000020.10:g.3471971= NC_000020.10:g.3471971G>A
ATRN RefSeqGene NG_029406.1:g.25307= NG_029406.1:g.25307G>A
ATRN transcript variant 4 NM_001207047.1:c.62+20190= NM_001207047.1:c.62+20190G>A
ATRN transcript variant 4 NM_001207047.3:c.62+20190= NM_001207047.3:c.62+20190G>A
ATRN transcript variant 5 NM_001323332.2:c.410+19807= NM_001323332.2:c.410+19807G>A
ATRN transcript variant 1 NM_139321.2:c.410+19807= NM_139321.2:c.410+19807G>A
ATRN transcript variant 1 NM_139321.3:c.410+19807= NM_139321.3:c.410+19807G>A
ATRN transcript variant 2 NM_139322.2:c.410+19807= NM_139322.2:c.410+19807G>A
ATRN transcript variant 2 NM_139322.4:c.410+19807= NM_139322.4:c.410+19807G>A
ATRN transcript variant X1 XM_005260860.1:c.410+19807= XM_005260860.1:c.410+19807G>A
ATRN transcript variant X2 XM_005260861.1:c.410+19807= XM_005260861.1:c.410+19807G>A
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#.

89 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss307626 Jul 12, 2000 (79)
2 KWOK ss308047 Jul 12, 2000 (85)
3 SC_JCM ss629134 Jul 16, 2000 (85)
4 KWOK ss1148399 Oct 04, 2000 (86)
5 KWOK ss1242198 Oct 04, 2000 (86)
6 KWOK ss1671808 Oct 18, 2000 (87)
7 SC_SNP ss8443588 Apr 21, 2003 (114)
8 WI_SSAHASNP ss12483405 Jul 11, 2003 (116)
9 CSHL-HAPMAP ss16890460 Feb 27, 2004 (120)
10 ABI ss44233049 Mar 14, 2006 (126)
11 ILLUMINA ss66710816 Nov 30, 2006 (127)
12 ILLUMINA ss67250974 Nov 30, 2006 (127)
13 ILLUMINA ss67648664 Nov 30, 2006 (127)
14 CSHL-HAPMAP ss68410883 Jan 12, 2007 (127)
15 ILLUMINA ss70729308 May 26, 2008 (130)
16 ILLUMINA ss71298574 May 17, 2007 (127)
17 ILLUMINA ss75635208 Dec 07, 2007 (129)
18 HGSV ss78538284 Dec 07, 2007 (129)
19 ILLUMINA ss79132845 Dec 16, 2007 (130)
20 KRIBB_YJKIM ss83398091 Dec 16, 2007 (130)
21 1000GENOMES ss111628038 Jan 25, 2009 (130)
22 ILLUMINA-UK ss117462430 Feb 14, 2009 (130)
23 ILLUMINA ss122022472 Dec 01, 2009 (131)
24 ILLUMINA ss153908706 Dec 01, 2009 (131)
25 ILLUMINA ss159386574 Dec 01, 2009 (131)
26 ENSEMBL ss161319566 Dec 01, 2009 (131)
27 ILLUMINA ss171233647 Jul 04, 2010 (132)
28 ILLUMINA ss173320536 Jul 04, 2010 (132)
29 BUSHMAN ss203812704 Jul 04, 2010 (132)
30 BCM-HGSC-SUB ss208730077 Jul 04, 2010 (132)
31 1000GENOMES ss228225749 Jul 14, 2010 (132)
32 1000GENOMES ss237740851 Jul 15, 2010 (132)
33 1000GENOMES ss243931974 Jul 15, 2010 (132)
34 BL ss255439978 May 09, 2011 (134)
35 GMI ss287413111 Apr 25, 2013 (138)
36 PJP ss292566161 May 09, 2011 (134)
37 TISHKOFF ss566101004 Apr 25, 2013 (138)
38 SSMP ss661970893 Apr 25, 2013 (138)
39 ILLUMINA ss825463363 Apr 01, 2015 (144)
40 ILLUMINA ss832898336 Jul 13, 2019 (153)
41 EVA-GONL ss994484551 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1082030010 Aug 21, 2014 (142)
43 1000GENOMES ss1363866153 Aug 21, 2014 (142)
44 EVA_GENOME_DK ss1579414091 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1638303786 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1681297819 Apr 01, 2015 (144)
47 EVA_DECODE ss1698539052 Apr 01, 2015 (144)
48 EVA_SVP ss1713674818 Apr 01, 2015 (144)
49 HAMMER_LAB ss1809397493 Sep 08, 2015 (146)
50 WEILL_CORNELL_DGM ss1937993501 Feb 12, 2016 (147)
51 GENOMED ss1969077445 Jul 19, 2016 (147)
52 JJLAB ss2029773618 Sep 14, 2016 (149)
53 USC_VALOUEV ss2158327724 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2240916594 Dec 20, 2016 (150)
55 GNOMAD ss2964880944 Nov 08, 2017 (151)
56 SWEGEN ss3017786412 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3028718805 Nov 08, 2017 (151)
58 CSHL ss3352393425 Nov 08, 2017 (151)
59 ILLUMINA ss3638331398 Oct 12, 2018 (152)
60 ILLUMINA ss3639169190 Oct 12, 2018 (152)
61 ILLUMINA ss3639598547 Oct 12, 2018 (152)
62 ILLUMINA ss3643295196 Oct 12, 2018 (152)
63 EGCUT_WGS ss3684499972 Jul 13, 2019 (153)
64 EVA_DECODE ss3706457699 Jul 13, 2019 (153)
65 ACPOP ss3743202960 Jul 13, 2019 (153)
66 EVA ss3758359314 Jul 13, 2019 (153)
67 KHV_HUMAN_GENOMES ss3821530857 Jul 13, 2019 (153)
68 EVA ss3835559894 Apr 27, 2020 (154)
69 EVA ss3841403587 Apr 27, 2020 (154)
70 EVA ss3846911001 Apr 27, 2020 (154)
71 HGDP ss3847658571 Apr 27, 2020 (154)
72 SGDP_PRJ ss3888625183 Apr 27, 2020 (154)
73 KRGDB ss3938807181 Apr 27, 2020 (154)
74 KOGIC ss3981730332 Apr 27, 2020 (154)
75 EVA ss3985863695 Apr 27, 2021 (155)
76 EVA ss4017834646 Apr 27, 2021 (155)
77 TOPMED ss5080572492 Apr 27, 2021 (155)
78 TOMMO_GENOMICS ss5228619993 Apr 27, 2021 (155)
79 1000G_HIGH_COVERAGE ss5307910409 Oct 16, 2022 (156)
80 EVA ss5435941257 Oct 16, 2022 (156)
81 HUGCELL_USP ss5500327732 Oct 16, 2022 (156)
82 EVA ss5512140630 Oct 16, 2022 (156)
83 1000G_HIGH_COVERAGE ss5613906559 Oct 16, 2022 (156)
84 SANFORD_IMAGENETICS ss5662763006 Oct 16, 2022 (156)
85 TOMMO_GENOMICS ss5787545827 Oct 16, 2022 (156)
86 EVA ss5845373576 Oct 16, 2022 (156)
87 EVA ss5853045684 Oct 16, 2022 (156)
88 EVA ss5922473462 Oct 16, 2022 (156)
89 EVA ss5957660793 Oct 16, 2022 (156)
90 1000Genomes NC_000020.10 - 3471971 Oct 12, 2018 (152)
91 1000Genomes_30x NC_000020.11 - 3491324 Oct 16, 2022 (156)
92 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 3471971 Oct 12, 2018 (152)
93 Genetic variation in the Estonian population NC_000020.10 - 3471971 Oct 12, 2018 (152)
94 The Danish reference pan genome NC_000020.10 - 3471971 Apr 27, 2020 (154)
95 gnomAD - Genomes NC_000020.11 - 3491324 Apr 27, 2021 (155)
96 Genome of the Netherlands Release 5 NC_000020.10 - 3471971 Apr 27, 2020 (154)
97 HGDP-CEPH-db Supplement 1 NC_000020.9 - 3419971 Apr 27, 2020 (154)
98 HapMap NC_000020.11 - 3491324 Apr 27, 2020 (154)
99 KOREAN population from KRGDB NC_000020.10 - 3471971 Apr 27, 2020 (154)
100 Korean Genome Project NC_000020.11 - 3491324 Apr 27, 2020 (154)
101 Northern Sweden NC_000020.10 - 3471971 Jul 13, 2019 (153)
102 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000020.10 - 3471971 Apr 27, 2021 (155)
103 Qatari NC_000020.10 - 3471971 Apr 27, 2020 (154)
104 SGDP_PRJ NC_000020.10 - 3471971 Apr 27, 2020 (154)
105 Siberian NC_000020.10 - 3471971 Apr 27, 2020 (154)
106 8.3KJPN NC_000020.10 - 3471971 Apr 27, 2021 (155)
107 14KJPN NC_000020.11 - 3491324 Oct 16, 2022 (156)
108 TopMed NC_000020.11 - 3491324 Apr 27, 2021 (155)
109 UK 10K study - Twins NC_000020.10 - 3471971 Oct 12, 2018 (152)
110 ALFA NC_000020.11 - 3491324 Apr 27, 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)
rs239107 Sep 19, 2000 (85)
rs61511377 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
336463, ss78538284, ss111628038, ss117462430, ss203812704, ss208730077, ss255439978, ss287413111, ss292566161, ss825463363, ss1698539052, ss1713674818, ss3639169190, ss3639598547, ss3643295196, ss3847658571 NC_000020.9:3419970:G:A NC_000020.11:3491323:G:A (self)
77298503, 42785753, 30238220, 5579030, 19064177, 45984575, 16487825, 1089622, 20035423, 40642163, 10844078, 86589300, 42785753, ss228225749, ss237740851, ss243931974, ss566101004, ss661970893, ss832898336, ss994484551, ss1082030010, ss1363866153, ss1579414091, ss1638303786, ss1681297819, ss1809397493, ss1937993501, ss1969077445, ss2029773618, ss2158327724, ss2964880944, ss3017786412, ss3352393425, ss3638331398, ss3684499972, ss3743202960, ss3758359314, ss3835559894, ss3841403587, ss3888625183, ss3938807181, ss3985863695, ss4017834646, ss5228619993, ss5435941257, ss5512140630, ss5662763006, ss5845373576, ss5957660793 NC_000020.10:3471970:G:A NC_000020.11:3491323:G:A (self)
101432494, 545082824, 2054720, 38108333, 121382931, 355681437, 14592634111, ss2240916594, ss3028718805, ss3706457699, ss3821530857, ss3846911001, ss3981730332, ss5080572492, ss5307910409, ss5500327732, ss5613906559, ss5787545827, ss5853045684, ss5922473462 NC_000020.11:3491323:G:A NC_000020.11:3491323:G:A (self)
ss307626, ss308047, ss629134, ss1148399, ss1242198, ss1671808, ss8443588, ss12483405, ss16890460, ss44233049, ss66710816, ss67250974, ss67648664, ss68410883, ss70729308, ss71298574, ss75635208, ss79132845, ss83398091, ss122022472, ss153908706, ss159386574, ss161319566, ss171233647, ss173320536 NT_011387.8:3411970:G:A NC_000020.11:3491323:G:A (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 rs238722

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