Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs1958226

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:81738270 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.087823 (23246/264690, TOPMED)
G=0.090490 (12684/140170, GnomAD)
G=0.084007 (9618/114490, ALFA) (+ 20 more)
G=0.02502 (707/28258, 14KJPN)
G=0.02578 (432/16760, 8.3KJPN)
G=0.0606 (388/6404, 1000G_30x)
G=0.0611 (306/5008, 1000G)
G=0.0658 (295/4480, Estonian)
G=0.0919 (354/3854, ALSPAC)
G=0.0844 (313/3708, TWINSUK)
G=0.0154 (45/2930, KOREAN)
G=0.0643 (134/2084, HGDP_Stanford)
G=0.0126 (23/1832, Korea1K)
G=0.0819 (141/1722, HapMap)
G=0.089 (89/998, GoNL)
G=0.045 (27/600, NorthernSweden)
G=0.069 (15/216, Qatari)
G=0.005 (1/214, Vietnamese)
A=0.47 (32/68, SGDP_PRJ)
G=0.05 (2/40, GENOME_DK)
G=0.00 (0/26, Ancient Sardinia)
A=0.5 (3/6, Siberian)
G=0.5 (3/6, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LINC02311 : Intron Variant
LOC107984704 : 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 114490 A=0.915993 G=0.084007
European Sub 96054 A=0.91586 G=0.08414
African Sub 6516 A=0.8766 G=0.1234
African Others Sub 236 A=0.903 G=0.097
African American Sub 6280 A=0.8756 G=0.1244
Asian Sub 564 A=0.989 G=0.011
East Asian Sub 482 A=0.990 G=0.010
Other Asian Sub 82 A=0.99 G=0.01
Latin American 1 Sub 622 A=0.899 G=0.101
Latin American 2 Sub 1474 A=0.9457 G=0.0543
South Asian Sub 5020 A=0.9496 G=0.0504
Other Sub 4240 A=0.9222 G=0.0778


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=0.912177 G=0.087823
gnomAD - Genomes Global Study-wide 140170 A=0.909510 G=0.090490
gnomAD - Genomes European Sub 75926 A=0.91573 G=0.08427
gnomAD - Genomes African Sub 41986 A=0.88253 G=0.11747
gnomAD - Genomes American Sub 13656 A=0.94566 G=0.05434
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.8777 G=0.1223
gnomAD - Genomes East Asian Sub 3130 A=0.9927 G=0.0073
gnomAD - Genomes Other Sub 2152 A=0.9150 G=0.0850
Allele Frequency Aggregator Total Global 114490 A=0.915993 G=0.084007
Allele Frequency Aggregator European Sub 96054 A=0.91586 G=0.08414
Allele Frequency Aggregator African Sub 6516 A=0.8766 G=0.1234
Allele Frequency Aggregator South Asian Sub 5020 A=0.9496 G=0.0504
Allele Frequency Aggregator Other Sub 4240 A=0.9222 G=0.0778
Allele Frequency Aggregator Latin American 2 Sub 1474 A=0.9457 G=0.0543
Allele Frequency Aggregator Latin American 1 Sub 622 A=0.899 G=0.101
Allele Frequency Aggregator Asian Sub 564 A=0.989 G=0.011
14KJPN JAPANESE Study-wide 28258 A=0.97498 G=0.02502
8.3KJPN JAPANESE Study-wide 16760 A=0.97422 G=0.02578
1000Genomes_30x Global Study-wide 6404 A=0.9394 G=0.0606
1000Genomes_30x African Sub 1786 A=0.8886 G=0.1114
1000Genomes_30x Europe Sub 1266 A=0.9202 G=0.0798
1000Genomes_30x South Asian Sub 1202 A=0.9692 G=0.0308
1000Genomes_30x East Asian Sub 1170 A=0.9906 G=0.0094
1000Genomes_30x American Sub 980 A=0.959 G=0.041
1000Genomes Global Study-wide 5008 A=0.9389 G=0.0611
1000Genomes African Sub 1322 A=0.8812 G=0.1188
1000Genomes East Asian Sub 1008 A=0.9891 G=0.0109
1000Genomes Europe Sub 1006 A=0.9215 G=0.0785
1000Genomes South Asian Sub 978 A=0.968 G=0.032
1000Genomes American Sub 694 A=0.960 G=0.040
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9342 G=0.0658
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9081 G=0.0919
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9156 G=0.0844
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.9846 G=0.0154
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.9357 G=0.0643
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.989 G=0.011
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.932 G=0.068
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.889 G=0.111
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.912 G=0.087
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.864 G=0.136
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.995 G=0.005
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=1.00 G=0.00
Korean Genome Project KOREAN Study-wide 1832 A=0.9874 G=0.0126
HapMap Global Study-wide 1722 A=0.9181 G=0.0819
HapMap African Sub 692 A=0.879 G=0.121
HapMap American Sub 600 A=0.937 G=0.063
HapMap Asian Sub 254 A=0.988 G=0.012
HapMap Europe Sub 176 A=0.909 G=0.091
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.911 G=0.089
Northern Sweden ACPOP Study-wide 600 A=0.955 G=0.045
Qatari Global Study-wide 216 A=0.931 G=0.069
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.995 G=0.005
SGDP_PRJ Global Study-wide 68 A=0.47 G=0.53
The Danish reference pan genome Danish Study-wide 40 A=0.95 G=0.05
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 26 A=1.00 G=0.00
Siberian Global Study-wide 6 A=0.5 G=0.5
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 14 NC_000014.9:g.81738270A>G
GRCh37.p13 chr 14 NC_000014.8:g.82204614A>G
Gene: LINC02311, long intergenic non-protein coding RNA 2311 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LINC02311 transcript NR_146498.1:n. N/A Intron Variant
Gene: LOC107984704, uncharacterized LOC107984704 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC107984704 transcript variant X2 XR_001750835.1:n. N/A Intron Variant
LOC107984704 transcript variant X4 XR_001750837.1:n. N/A Intron Variant
LOC107984704 transcript variant X5 XR_001750838.1:n. N/A Intron Variant
LOC107984704 transcript variant X3 XR_001750836.3:n. N/A Genic Upstream Transcript Variant
LOC107984704 transcript variant X1 XR_007064292.1:n. N/A Genic Upstream Transcript 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= G
GRCh38.p14 chr 14 NC_000014.9:g.81738270= NC_000014.9:g.81738270A>G
GRCh37.p13 chr 14 NC_000014.8:g.82204614= NC_000014.8:g.82204614A>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#.

76 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2853503 Jan 12, 2001 (92)
2 ABI ss43646408 Mar 13, 2006 (126)
3 ILLUMINA ss66804711 Nov 29, 2006 (127)
4 ILLUMINA ss67210700 Nov 29, 2006 (127)
5 ILLUMINA ss67603787 Nov 29, 2006 (127)
6 ILLUMINA ss70688962 May 26, 2008 (130)
7 ILLUMINA ss71253662 May 16, 2007 (127)
8 ILLUMINA ss75844195 Dec 07, 2007 (129)
9 ILLUMINA ss79104053 Dec 16, 2007 (130)
10 KRIBB_YJKIM ss83930581 Dec 16, 2007 (130)
11 ILLUMINA ss121866294 Dec 01, 2009 (131)
12 ILLUMINA ss153795583 Dec 01, 2009 (131)
13 ILLUMINA ss159344080 Dec 01, 2009 (131)
14 ILLUMINA ss160481676 Dec 01, 2009 (131)
15 ILLUMINA ss170909433 Jul 04, 2010 (132)
16 ILLUMINA ss173012540 Jul 04, 2010 (132)
17 1000GENOMES ss226678653 Jul 14, 2010 (132)
18 1000GENOMES ss236622972 Jul 15, 2010 (132)
19 ILLUMINA ss481142098 Sep 08, 2015 (146)
20 ILLUMINA ss537014942 Sep 08, 2015 (146)
21 TISHKOFF ss564221747 Apr 25, 2013 (138)
22 SSMP ss659913870 Apr 25, 2013 (138)
23 ILLUMINA ss825434571 Apr 01, 2015 (144)
24 ILLUMINA ss832856042 Jul 13, 2019 (153)
25 EVA-GONL ss991368778 Aug 21, 2014 (142)
26 JMKIDD_LAB ss1079819561 Aug 21, 2014 (142)
27 1000GENOMES ss1351840464 Aug 21, 2014 (142)
28 DDI ss1427486239 Apr 01, 2015 (144)
29 EVA_GENOME_DK ss1577382953 Apr 01, 2015 (144)
30 EVA_UK10K_ALSPAC ss1632188470 Apr 01, 2015 (144)
31 EVA_UK10K_TWINSUK ss1675182503 Apr 01, 2015 (144)
32 EVA_DECODE ss1695376572 Apr 01, 2015 (144)
33 EVA_SVP ss1713460823 Apr 01, 2015 (144)
34 HAMMER_LAB ss1808011560 Sep 08, 2015 (146)
35 WEILL_CORNELL_DGM ss1934739292 Feb 12, 2016 (147)
36 JJLAB ss2028152002 Sep 14, 2016 (149)
37 USC_VALOUEV ss2156530780 Dec 20, 2016 (150)
38 HUMAN_LONGEVITY ss2203716221 Dec 20, 2016 (150)
39 GRF ss2700964563 Nov 08, 2017 (151)
40 ILLUMINA ss2710806170 Nov 08, 2017 (151)
41 GNOMAD ss2930076103 Nov 08, 2017 (151)
42 SWEGEN ss3012544339 Nov 08, 2017 (151)
43 BIOINF_KMB_FNS_UNIBA ss3027901572 Nov 08, 2017 (151)
44 CSHL ss3350904070 Nov 08, 2017 (151)
45 ILLUMINA ss3627269129 Oct 12, 2018 (152)
46 ILLUMINA ss3636276483 Oct 12, 2018 (152)
47 ILLUMINA ss3638062873 Oct 12, 2018 (152)
48 ILLUMINA ss3639044923 Oct 12, 2018 (152)
49 ILLUMINA ss3639527274 Oct 12, 2018 (152)
50 ILLUMINA ss3643048741 Oct 12, 2018 (152)
51 EGCUT_WGS ss3679803598 Jul 13, 2019 (153)
52 EVA_DECODE ss3697097565 Jul 13, 2019 (153)
53 ACPOP ss3740567836 Jul 13, 2019 (153)
54 EVA ss3752581346 Jul 13, 2019 (153)
55 KHV_HUMAN_GENOMES ss3817907090 Jul 13, 2019 (153)
56 EVA ss3834027874 Apr 27, 2020 (154)
57 HGDP ss3847510609 Apr 27, 2020 (154)
58 SGDP_PRJ ss3881944085 Apr 27, 2020 (154)
59 KRGDB ss3931009809 Apr 27, 2020 (154)
60 KOGIC ss3975352227 Apr 27, 2020 (154)
61 EVA ss3985692971 Apr 26, 2021 (155)
62 EVA ss4017681557 Apr 26, 2021 (155)
63 TOPMED ss4977870754 Apr 26, 2021 (155)
64 TOMMO_GENOMICS ss5214182619 Apr 26, 2021 (155)
65 1000G_HIGH_COVERAGE ss5296957813 Oct 16, 2022 (156)
66 EVA ss5416597490 Oct 16, 2022 (156)
67 HUGCELL_USP ss5490931636 Oct 16, 2022 (156)
68 EVA ss5511317200 Oct 16, 2022 (156)
69 1000G_HIGH_COVERAGE ss5597603215 Oct 16, 2022 (156)
70 SANFORD_IMAGENETICS ss5656636442 Oct 16, 2022 (156)
71 TOMMO_GENOMICS ss5767262984 Oct 16, 2022 (156)
72 YY_MCH ss5814933542 Oct 16, 2022 (156)
73 EVA ss5841401956 Oct 16, 2022 (156)
74 EVA ss5851124683 Oct 16, 2022 (156)
75 EVA ss5902186772 Oct 16, 2022 (156)
76 EVA ss5948090969 Oct 16, 2022 (156)
77 1000Genomes NC_000014.8 - 82204614 Oct 12, 2018 (152)
78 1000Genomes_30x NC_000014.9 - 81738270 Oct 16, 2022 (156)
79 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 82204614 Oct 12, 2018 (152)
80 Genetic variation in the Estonian population NC_000014.8 - 82204614 Oct 12, 2018 (152)
81 The Danish reference pan genome NC_000014.8 - 82204614 Apr 27, 2020 (154)
82 gnomAD - Genomes NC_000014.9 - 81738270 Apr 26, 2021 (155)
83 Genome of the Netherlands Release 5 NC_000014.8 - 82204614 Apr 27, 2020 (154)
84 HGDP-CEPH-db Supplement 1 NC_000014.7 - 81274367 Apr 27, 2020 (154)
85 HapMap NC_000014.9 - 81738270 Apr 27, 2020 (154)
86 KOREAN population from KRGDB NC_000014.8 - 82204614 Apr 27, 2020 (154)
87 Korean Genome Project NC_000014.9 - 81738270 Apr 27, 2020 (154)
88 Northern Sweden NC_000014.8 - 82204614 Jul 13, 2019 (153)
89 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000014.8 - 82204614 Apr 26, 2021 (155)
90 Qatari NC_000014.8 - 82204614 Apr 27, 2020 (154)
91 SGDP_PRJ NC_000014.8 - 82204614 Apr 27, 2020 (154)
92 Siberian NC_000014.8 - 82204614 Apr 27, 2020 (154)
93 8.3KJPN NC_000014.8 - 82204614 Apr 26, 2021 (155)
94 14KJPN NC_000014.9 - 81738270 Oct 16, 2022 (156)
95 TopMed NC_000014.9 - 81738270 Apr 26, 2021 (155)
96 UK 10K study - Twins NC_000014.8 - 82204614 Oct 12, 2018 (152)
97 A Vietnamese Genetic Variation Database NC_000014.8 - 82204614 Jul 13, 2019 (153)
98 ALFA NC_000014.9 - 81738270 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).

Associated ID History Updated (Build)
rs61496114 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
188501, ss825434571, ss1695376572, ss1713460823, ss3639044923, ss3639527274, ss3643048741, ss3847510609 NC_000014.7:81274366:A:G NC_000014.9:81738269:A:G (self)
64852855, 36043268, 25541846, 3690435, 16093655, 38187203, 13852701, 918898, 16781222, 33961065, 9047134, 72151926, 36043268, 8016112, ss226678653, ss236622972, ss481142098, ss537014942, ss564221747, ss659913870, ss832856042, ss991368778, ss1079819561, ss1351840464, ss1427486239, ss1577382953, ss1632188470, ss1675182503, ss1808011560, ss1934739292, ss2028152002, ss2156530780, ss2700964563, ss2710806170, ss2930076103, ss3012544339, ss3350904070, ss3627269129, ss3636276483, ss3638062873, ss3679803598, ss3740567836, ss3752581346, ss3834027874, ss3881944085, ss3931009809, ss3985692971, ss4017681557, ss5214182619, ss5416597490, ss5511317200, ss5656636442, ss5841401956, ss5948090969 NC_000014.8:82204613:A:G NC_000014.9:81738269:A:G (self)
85129150, 457239373, 1186778, 31730228, 101100088, 193416413, 5896558343, ss2203716221, ss3027901572, ss3697097565, ss3817907090, ss3975352227, ss4977870754, ss5296957813, ss5490931636, ss5597603215, ss5767262984, ss5814933542, ss5851124683, ss5902186772 NC_000014.9:81738269:A:G NC_000014.9:81738269:A:G (self)
ss2853503, ss43646408, ss66804711, ss67210700, ss67603787, ss70688962, ss71253662, ss75844195, ss79104053, ss83930581, ss121866294, ss153795583, ss159344080, ss160481676, ss170909433, ss173012540 NT_026437.12:63204613:A:G NC_000014.9:81738269:A: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 rs1958226

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