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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.

rs1193321

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:19215808 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.480895 (127288/264690, TOPMED)
G=0.49943 (14113/28258, 14KJPN)
A=0.49946 (8371/16760, 8.3KJPN) (+ 17 more)
G=0.37412 (4791/12806, ALFA)
A=0.4688 (3002/6404, 1000G_30x)
A=0.4722 (2365/5008, 1000G)
G=0.4234 (1897/4480, Estonian)
G=0.4504 (1736/3854, ALSPAC)
G=0.4779 (1772/3708, TWINSUK)
A=0.4956 (1452/2930, KOREAN)
G=0.4498 (511/1136, Daghestan)
G=0.442 (441/998, GoNL)
G=0.345 (207/600, NorthernSweden)
A=0.311 (130/418, SGDP_PRJ)
A=0.436 (136/312, HapMap)
G=0.477 (103/216, Qatari)
A=0.495 (103/208, Vietnamese)
A=0.50 (20/40, GENOME_DK)
G=0.50 (20/40, GENOME_DK)
A=0.28 (11/40, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC100128993 : 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 12806 A=0.62588 C=0.00000, G=0.37412, T=0.00000
European Sub 8932 A=0.6630 C=0.0000, G=0.3370, T=0.0000
African Sub 3208 A=0.4894 C=0.0000, G=0.5106, T=0.0000
African Others Sub 102 A=0.461 C=0.000, G=0.539, T=0.000
African American Sub 3106 A=0.4903 C=0.0000, G=0.5097, T=0.0000
Asian Sub 34 A=0.88 C=0.00, G=0.12, T=0.00
East Asian Sub 22 A=0.82 C=0.00, G=0.18, T=0.00
Other Asian Sub 12 A=1.00 C=0.00, G=0.00, T=0.00
Latin American 1 Sub 32 A=1.00 C=0.00, G=0.00, T=0.00
Latin American 2 Sub 170 A=1.000 C=0.000, G=0.000, T=0.000
South Asian Sub 26 A=0.88 C=0.00, G=0.12, T=0.00
Other Sub 404 A=0.663 C=0.000, G=0.337, T=0.000


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 A=0.480895 G=0.519105
14KJPN JAPANESE Study-wide 28258 A=0.50057 G=0.49943
8.3KJPN JAPANESE Study-wide 16760 A=0.49946 G=0.50054
Allele Frequency Aggregator Total Global 12806 A=0.62588 C=0.00000, G=0.37412, T=0.00000
Allele Frequency Aggregator European Sub 8932 A=0.6630 C=0.0000, G=0.3370, T=0.0000
Allele Frequency Aggregator African Sub 3208 A=0.4894 C=0.0000, G=0.5106, T=0.0000
Allele Frequency Aggregator Other Sub 404 A=0.663 C=0.000, G=0.337, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 170 A=1.000 C=0.000, G=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 34 A=0.88 C=0.00, G=0.12, T=0.00
Allele Frequency Aggregator Latin American 1 Sub 32 A=1.00 C=0.00, G=0.00, T=0.00
Allele Frequency Aggregator South Asian Sub 26 A=0.88 C=0.00, G=0.12, T=0.00
1000Genomes_30x Global Study-wide 6404 A=0.4688 G=0.5312
1000Genomes_30x African Sub 1786 A=0.3791 G=0.6209
1000Genomes_30x Europe Sub 1266 A=0.5205 G=0.4795
1000Genomes_30x South Asian Sub 1202 A=0.5166 G=0.4834
1000Genomes_30x East Asian Sub 1170 A=0.4556 G=0.5444
1000Genomes_30x American Sub 980 A=0.522 G=0.478
1000Genomes Global Study-wide 5008 A=0.4722 G=0.5278
1000Genomes African Sub 1322 A=0.3812 G=0.6188
1000Genomes East Asian Sub 1008 A=0.4633 G=0.5367
1000Genomes Europe Sub 1006 A=0.5288 G=0.4712
1000Genomes South Asian Sub 978 A=0.512 G=0.488
1000Genomes American Sub 694 A=0.520 G=0.480
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.5766 G=0.4234
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.5496 G=0.4504
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5221 G=0.4779
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.4956 G=0.5044
Genome-wide autozygosity in Daghestan Global Study-wide 1136 A=0.5502 G=0.4498
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.594 G=0.406
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.472 G=0.528
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.484 G=0.516
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.472 G=0.528
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.53 G=0.47
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.61 G=0.39
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.558 G=0.442
Northern Sweden ACPOP Study-wide 600 A=0.655 G=0.345
SGDP_PRJ Global Study-wide 418 A=0.311 G=0.689
HapMap Global Study-wide 312 A=0.436 G=0.564
HapMap American Sub 116 A=0.474 G=0.526
HapMap African Sub 112 A=0.366 G=0.634
HapMap Asian Sub 84 A=0.48 G=0.52
Qatari Global Study-wide 216 A=0.523 G=0.477
A Vietnamese Genetic Variation Database Global Study-wide 208 A=0.495 G=0.505
The Danish reference pan genome Danish Study-wide 40 A=0.50 G=0.50
Siberian Global Study-wide 40 A=0.28 G=0.72
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.19215808A>C
GRCh38.p14 chr 8 NC_000008.11:g.19215808A>G
GRCh38.p14 chr 8 NC_000008.11:g.19215808A>T
GRCh37.p13 chr 8 NC_000008.10:g.19073318A>C
GRCh37.p13 chr 8 NC_000008.10:g.19073318A>G
GRCh37.p13 chr 8 NC_000008.10:g.19073318A>T
Gene: LOC100128993, uncharacterized LOC100128993 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC100128993 transcript NR_038919.1:n. 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 A= C G T
GRCh38.p14 chr 8 NC_000008.11:g.19215808= NC_000008.11:g.19215808A>C NC_000008.11:g.19215808A>G NC_000008.11:g.19215808A>T
GRCh37.p13 chr 8 NC_000008.10:g.19073318= NC_000008.10:g.19073318A>C NC_000008.10:g.19073318A>G NC_000008.10:g.19073318A>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#.

72 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss1684041 Oct 18, 2000 (87)
2 SC_JCM ss3788163 Sep 28, 2001 (100)
3 CSHL-HAPMAP ss17962074 Feb 27, 2004 (120)
4 SSAHASNP ss22743621 Apr 05, 2004 (121)
5 ABI ss44841824 Mar 13, 2006 (126)
6 PERLEGEN ss46546157 Mar 13, 2006 (126)
7 PERLEGEN ss69042834 May 16, 2007 (127)
8 HUMANGENOME_JCVI ss98055693 Feb 04, 2009 (130)
9 BGI ss105604207 Feb 04, 2009 (130)
10 1000GENOMES ss112888835 Jan 25, 2009 (130)
11 ILLUMINA-UK ss115862975 Feb 14, 2009 (130)
12 ENSEMBL ss134462682 Dec 01, 2009 (131)
13 GMI ss156112796 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss162217677 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss166336475 Jul 04, 2010 (132)
16 BUSHMAN ss198878511 Jul 04, 2010 (132)
17 1000GENOMES ss223581631 Jul 14, 2010 (132)
18 1000GENOMES ss234349561 Jul 15, 2010 (132)
19 1000GENOMES ss241225234 Jul 15, 2010 (132)
20 BL ss254165612 May 09, 2011 (134)
21 GMI ss279721638 May 04, 2012 (137)
22 PJP ss294232959 May 09, 2011 (134)
23 ILLUMINA ss410896592 Sep 17, 2011 (135)
24 TISHKOFF ss560594919 Apr 25, 2013 (138)
25 SSMP ss655030562 Apr 25, 2013 (138)
26 EVA-GONL ss985265283 Aug 21, 2014 (142)
27 JMKIDD_LAB ss1075333974 Aug 21, 2014 (142)
28 1000GENOMES ss1328886701 Aug 21, 2014 (142)
29 HAMMER_LAB ss1397519875 Sep 08, 2015 (146)
30 DDI ss1431439429 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1582590679 Apr 01, 2015 (144)
32 EVA_DECODE ss1594854700 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1620118159 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1663112192 Apr 01, 2015 (144)
35 HAMMER_LAB ss1805429498 Sep 08, 2015 (146)
36 WEILL_CORNELL_DGM ss1928554777 Feb 12, 2016 (147)
37 JJLAB ss2024976616 Sep 14, 2016 (149)
38 USC_VALOUEV ss2153198076 Dec 20, 2016 (150)
39 HUMAN_LONGEVITY ss2301229443 Dec 20, 2016 (150)
40 SYSTEMSBIOZJU ss2626973239 Nov 08, 2017 (151)
41 GRF ss2708958760 Nov 08, 2017 (151)
42 GNOMAD ss2864016260 Nov 08, 2017 (151)
43 SWEGEN ss3002793533 Nov 08, 2017 (151)
44 BIOINF_KMB_FNS_UNIBA ss3026278920 Nov 08, 2017 (151)
45 CSHL ss3348078855 Nov 08, 2017 (151)
46 URBANLAB ss3648867028 Oct 12, 2018 (152)
47 EGCUT_WGS ss3670472787 Jul 13, 2019 (153)
48 EVA_DECODE ss3721542258 Jul 13, 2019 (153)
49 ACPOP ss3735461249 Jul 13, 2019 (153)
50 EVA ss3767708884 Jul 13, 2019 (153)
51 PACBIO ss3786085576 Jul 13, 2019 (153)
52 PACBIO ss3791352136 Jul 13, 2019 (153)
53 PACBIO ss3796233299 Jul 13, 2019 (153)
54 KHV_HUMAN_GENOMES ss3810872510 Jul 13, 2019 (153)
55 EVA ss3831051278 Apr 26, 2020 (154)
56 EVA ss3839035555 Apr 26, 2020 (154)
57 EVA ss3844493560 Apr 26, 2020 (154)
58 SGDP_PRJ ss3869422067 Apr 26, 2020 (154)
59 KRGDB ss3916847495 Apr 26, 2020 (154)
60 TOPMED ss4777858259 Apr 26, 2021 (155)
61 TOMMO_GENOMICS ss5187625171 Apr 26, 2021 (155)
62 1000G_HIGH_COVERAGE ss5276306109 Oct 13, 2022 (156)
63 EVA ss5379596322 Oct 13, 2022 (156)
64 HUGCELL_USP ss5472958541 Oct 13, 2022 (156)
65 1000G_HIGH_COVERAGE ss5566217891 Oct 13, 2022 (156)
66 SANFORD_IMAGENETICS ss5644909972 Oct 13, 2022 (156)
67 TOMMO_GENOMICS ss5729233264 Oct 13, 2022 (156)
68 YY_MCH ss5809511121 Oct 13, 2022 (156)
69 EVA ss5830215202 Oct 13, 2022 (156)
70 EVA ss5856284233 Oct 13, 2022 (156)
71 EVA ss5887992928 Oct 13, 2022 (156)
72 EVA ss5974089327 Oct 13, 2022 (156)
73 1000Genomes NC_000008.10 - 19073318 Oct 12, 2018 (152)
74 1000Genomes_30x NC_000008.11 - 19215808 Oct 13, 2022 (156)
75 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 19073318 Oct 12, 2018 (152)
76 Genome-wide autozygosity in Daghestan NC_000008.9 - 19117598 Apr 26, 2020 (154)
77 Genetic variation in the Estonian population NC_000008.10 - 19073318 Oct 12, 2018 (152)
78 The Danish reference pan genome NC_000008.10 - 19073318 Apr 26, 2020 (154)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 288997818 (NC_000008.11:19215807:A:C 1/140092)
Row 288997819 (NC_000008.11:19215807:A:G 71597/140038)

- Apr 26, 2021 (155)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 288997818 (NC_000008.11:19215807:A:C 1/140092)
Row 288997819 (NC_000008.11:19215807:A:G 71597/140038)

- Apr 26, 2021 (155)
81 Genome of the Netherlands Release 5 NC_000008.10 - 19073318 Apr 26, 2020 (154)
82 HapMap NC_000008.11 - 19215808 Apr 26, 2020 (154)
83 KOREAN population from KRGDB NC_000008.10 - 19073318 Apr 26, 2020 (154)
84 Northern Sweden NC_000008.10 - 19073318 Jul 13, 2019 (153)
85 Qatari NC_000008.10 - 19073318 Apr 26, 2020 (154)
86 SGDP_PRJ NC_000008.10 - 19073318 Apr 26, 2020 (154)
87 Siberian NC_000008.10 - 19073318 Apr 26, 2020 (154)
88 8.3KJPN NC_000008.10 - 19073318 Apr 26, 2021 (155)
89 14KJPN NC_000008.11 - 19215808 Oct 13, 2022 (156)
90 TopMed NC_000008.11 - 19215808 Apr 26, 2021 (155)
91 UK 10K study - Twins NC_000008.10 - 19073318 Oct 12, 2018 (152)
92 A Vietnamese Genetic Variation Database NC_000008.10 - 19073318 Jul 13, 2019 (153)
93 ALFA NC_000008.11 - 19215808 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
4068792060 NC_000008.11:19215807:A:C NC_000008.11:19215807:A:C (self)
493773, ss112888835, ss115862975, ss162217677, ss166336475, ss198878511, ss254165612, ss279721638, ss294232959, ss1397519875, ss1594854700 NC_000008.9:19117597:A:G NC_000008.11:19215807:A:G (self)
40980795, 22780438, 16211035, 8755617, 10179733, 24024889, 8746114, 10596707, 21439047, 5714430, 45594478, 22780438, 5079811, ss223581631, ss234349561, ss241225234, ss560594919, ss655030562, ss985265283, ss1075333974, ss1328886701, ss1431439429, ss1582590679, ss1620118159, ss1663112192, ss1805429498, ss1928554777, ss2024976616, ss2153198076, ss2626973239, ss2708958760, ss2864016260, ss3002793533, ss3348078855, ss3670472787, ss3735461249, ss3767708884, ss3786085576, ss3791352136, ss3796233299, ss3831051278, ss3839035555, ss3869422067, ss3916847495, ss5187625171, ss5379596322, ss5644909972, ss5830215202, ss5974089327 NC_000008.10:19073317:A:G NC_000008.11:19215807:A:G (self)
53743826, 3579490, 63070368, 615235819, 4068792060, ss2301229443, ss3026278920, ss3648867028, ss3721542258, ss3810872510, ss3844493560, ss4777858259, ss5276306109, ss5472958541, ss5566217891, ss5729233264, ss5809511121, ss5856284233, ss5887992928 NC_000008.11:19215807:A:G NC_000008.11:19215807:A:G (self)
ss17962074, ss22743621 NT_030737.8:6884238:A:G NC_000008.11:19215807:A:G (self)
ss1684041, ss3788163, ss44841824, ss46546157, ss69042834, ss98055693, ss105604207, ss134462682, ss156112796, ss410896592 NT_167187.1:6931463:A:G NC_000008.11:19215807:A:G (self)
ss2864016260 NC_000008.10:19073317:A:T NC_000008.11:19215807:A:T (self)
4068792060 NC_000008.11:19215807:A:T NC_000008.11:19215807:A: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 rs1193321

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