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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.

rs1282

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr4:8578031 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.182183 (57650/316440, ALFA)
T=0.176656 (46759/264690, TOPMED)
T=0.178779 (25029/140000, GnomAD) (+ 19 more)
T=0.14918 (11741/78702, PAGE_STUDY)
T=0.00042 (7/16760, 8.3KJPN)
T=0.1356 (679/5008, 1000G)
T=0.1509 (676/4480, Estonian)
T=0.1923 (741/3854, ALSPAC)
T=0.1726 (640/3708, TWINSUK)
T=0.0024 (7/2922, KOREAN)
T=0.1444 (301/2084, HGDP_Stanford)
T=0.1417 (256/1806, HapMap)
T=0.207 (207/998, GoNL)
T=0.014 (11/792, PRJEB37584)
T=0.097 (61/626, Chileans)
T=0.103 (62/600, NorthernSweden)
T=0.241 (52/216, Qatari)
T=0.037 (8/214, Vietnamese)
C=0.425 (51/120, SGDP_PRJ)
T=0.17 (7/40, GENOME_DK)
C=0.5 (3/6, Siberian)
T=0.5 (3/6, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
2 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 316440 C=0.817817 G=0.000000, T=0.182183
European Sub 276220 C=0.811328 G=0.000000, T=0.188672
African Sub 10754 C=0.84043 G=0.00000, T=0.15957
African Others Sub 378 C=0.847 G=0.000, T=0.153
African American Sub 10376 C=0.84021 G=0.00000, T=0.15979
Asian Sub 3984 C=0.9797 G=0.0000, T=0.0203
East Asian Sub 3208 C=0.9916 G=0.0000, T=0.0084
Other Asian Sub 776 C=0.930 G=0.000, T=0.070
Latin American 1 Sub 1224 C=0.8423 G=0.0000, T=0.1577
Latin American 2 Sub 9240 C=0.9051 G=0.0000, T=0.0949
South Asian Sub 5202 C=0.8005 G=0.0000, T=0.1995
Other Sub 9816 C=0.8339 G=0.0000, T=0.1661


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 C=0.823344 T=0.176656
gnomAD - Genomes Global Study-wide 140000 C=0.821221 T=0.178779
gnomAD - Genomes European Sub 75852 C=0.82069 T=0.17931
gnomAD - Genomes African Sub 41924 C=0.80644 T=0.19356
gnomAD - Genomes American Sub 13622 C=0.84929 T=0.15071
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.7592 T=0.2408
gnomAD - Genomes East Asian Sub 3130 C=0.9789 T=0.0211
gnomAD - Genomes Other Sub 2150 C=0.8167 T=0.1833
The PAGE Study Global Study-wide 78702 C=0.85082 T=0.14918
The PAGE Study AfricanAmerican Sub 32516 C=0.80757 T=0.19243
The PAGE Study Mexican Sub 10810 C=0.90768 T=0.09232
The PAGE Study Asian Sub 8318 C=0.9935 T=0.0065
The PAGE Study PuertoRican Sub 7918 C=0.8184 T=0.1816
The PAGE Study NativeHawaiian Sub 4534 C=0.8626 T=0.1374
The PAGE Study Cuban Sub 4230 C=0.8002 T=0.1998
The PAGE Study Dominican Sub 3828 C=0.8174 T=0.1826
The PAGE Study CentralAmerican Sub 2450 C=0.8898 T=0.1102
The PAGE Study SouthAmerican Sub 1982 C=0.9001 T=0.0999
The PAGE Study NativeAmerican Sub 1260 C=0.8563 T=0.1437
The PAGE Study SouthAsian Sub 856 C=0.792 T=0.208
8.3KJPN JAPANESE Study-wide 16760 C=0.99958 T=0.00042
1000Genomes Global Study-wide 5008 C=0.8644 T=0.1356
1000Genomes African Sub 1322 C=0.8222 T=0.1778
1000Genomes East Asian Sub 1008 C=0.9762 T=0.0238
1000Genomes Europe Sub 1006 C=0.8390 T=0.1610
1000Genomes South Asian Sub 978 C=0.832 T=0.168
1000Genomes American Sub 694 C=0.865 T=0.135
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8491 T=0.1509
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8077 T=0.1923
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8274 T=0.1726
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9976 T=0.0024
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.8556 T=0.1444
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.977 T=0.023
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.795 T=0.205
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.731 T=0.269
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.778 T=0.222
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.876 T=0.124
HGDP-CEPH-db Supplement 1 America Sub 216 C=1.000 T=0.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.86 T=0.14
HapMap Global Study-wide 1806 C=0.8583 T=0.1417
HapMap American Sub 770 C=0.866 T=0.134
HapMap African Sub 690 C=0.830 T=0.170
HapMap Europe Sub 176 C=0.812 T=0.188
HapMap Asian Sub 170 C=0.982 T=0.018
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.793 T=0.207
CNV burdens in cranial meningiomas Global Study-wide 792 C=0.986 T=0.014
CNV burdens in cranial meningiomas CRM Sub 792 C=0.986 T=0.014
Chileans Chilean Study-wide 626 C=0.903 T=0.097
Northern Sweden ACPOP Study-wide 600 C=0.897 T=0.103
Qatari Global Study-wide 216 C=0.759 T=0.241
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.963 T=0.037
SGDP_PRJ Global Study-wide 120 C=0.425 T=0.575
The Danish reference pan genome Danish Study-wide 40 C=0.82 T=0.17
Siberian Global Study-wide 6 C=0.5 T=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.p13 chr 4 NC_000004.12:g.8578031C>G
GRCh38.p13 chr 4 NC_000004.12:g.8578031C>T
GRCh37.p13 chr 4 NC_000004.11:g.8579758C>G
GRCh37.p13 chr 4 NC_000004.11:g.8579758C>T
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 C= G T
GRCh38.p13 chr 4 NC_000004.12:g.8578031= NC_000004.12:g.8578031C>G NC_000004.12:g.8578031C>T
GRCh37.p13 chr 4 NC_000004.11:g.8579758= NC_000004.11:g.8579758C>G NC_000004.11:g.8579758C>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#.

102 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 WIAF ss1307 Sep 19, 2000 (36)
2 AFFY ss66477581 Dec 02, 2006 (127)
3 ILLUMINA ss66735240 Dec 02, 2006 (127)
4 ILLUMINA ss67041311 Dec 02, 2006 (127)
5 ILLUMINA ss67365920 Dec 02, 2006 (127)
6 PERLEGEN ss68890298 May 18, 2007 (127)
7 ILLUMINA ss70416454 May 18, 2007 (127)
8 ILLUMINA ss70585808 May 26, 2008 (130)
9 ILLUMINA ss71128706 May 18, 2007 (127)
10 ILLUMINA ss75707619 Dec 06, 2007 (129)
11 AFFY ss76290351 Dec 06, 2007 (129)
12 KRIBB_YJKIM ss83344541 Dec 15, 2007 (130)
13 ILLUMINA ss121604457 Dec 01, 2009 (131)
14 ILLUMINA ss153284822 Dec 01, 2009 (131)
15 ILLUMINA ss159235820 Dec 01, 2009 (131)
16 ILLUMINA ss160301484 Dec 01, 2009 (131)
17 ILLUMINA ss170235771 Jul 04, 2010 (132)
18 ILLUMINA ss172251294 Jul 04, 2010 (132)
19 AFFY ss173143702 Jul 04, 2010 (132)
20 1000GENOMES ss210565482 Jul 14, 2010 (132)
21 1000GENOMES ss211355109 Jul 14, 2010 (132)
22 1000GENOMES ss220732860 Jul 14, 2010 (132)
23 1000GENOMES ss232252583 Jul 14, 2010 (132)
24 ILLUMINA ss479825810 May 04, 2012 (137)
25 ILLUMINA ss479832995 May 04, 2012 (137)
26 ILLUMINA ss480422777 Sep 08, 2015 (146)
27 ILLUMINA ss484711376 May 04, 2012 (137)
28 ILLUMINA ss536815365 Sep 08, 2015 (146)
29 SSMP ss651055087 Apr 25, 2013 (138)
30 ILLUMINA ss778790796 Sep 08, 2015 (146)
31 ILLUMINA ss782802447 Sep 08, 2015 (146)
32 ILLUMINA ss783767899 Sep 08, 2015 (146)
33 ILLUMINA ss825385728 Apr 01, 2015 (144)
34 ILLUMINA ss832055457 Sep 08, 2015 (146)
35 ILLUMINA ss832748153 Jul 13, 2019 (153)
36 ILLUMINA ss834250839 Sep 08, 2015 (146)
37 EVA-GONL ss979740541 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1071260815 Aug 21, 2014 (142)
39 1000GENOMES ss1308344963 Aug 21, 2014 (142)
40 DDI ss1429764892 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1580405811 Apr 01, 2015 (144)
42 EVA_DECODE ss1589235146 Apr 01, 2015 (144)
43 EVA_UK10K_ALSPAC ss1609366293 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1652360326 Apr 01, 2015 (144)
45 EVA_SVP ss1712650145 Apr 01, 2015 (144)
46 ILLUMINA ss1752535215 Sep 08, 2015 (146)
47 HAMMER_LAB ss1800993091 Sep 08, 2015 (146)
48 WEILL_CORNELL_DGM ss1922977743 Feb 12, 2016 (147)
49 ILLUMINA ss1946109864 Feb 12, 2016 (147)
50 ILLUMINA ss1958659271 Feb 12, 2016 (147)
51 JJLAB ss2022061657 Sep 14, 2016 (149)
52 ILLUMINA ss2095142169 Dec 20, 2016 (150)
53 USC_VALOUEV ss2150172745 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2260300788 Dec 20, 2016 (150)
55 TOPMED ss2427731640 Dec 20, 2016 (150)
56 ILLUMINA ss2634080410 Nov 08, 2017 (151)
57 GRF ss2705609992 Nov 08, 2017 (151)
58 ILLUMINA ss2710998516 Nov 08, 2017 (151)
59 GNOMAD ss2805390533 Nov 08, 2017 (151)
60 AFFY ss2985285714 Nov 08, 2017 (151)
61 AFFY ss2985908667 Nov 08, 2017 (151)
62 SWEGEN ss2994100956 Nov 08, 2017 (151)
63 ILLUMINA ss3022345701 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3024800851 Nov 08, 2017 (151)
65 CSHL ss3345532894 Nov 08, 2017 (151)
66 TOPMED ss3419781764 Nov 08, 2017 (151)
67 ILLUMINA ss3625837236 Oct 12, 2018 (152)
68 ILLUMINA ss3628898840 Oct 12, 2018 (152)
69 ILLUMINA ss3632019131 Oct 12, 2018 (152)
70 ILLUMINA ss3633325306 Oct 12, 2018 (152)
71 ILLUMINA ss3634043950 Oct 12, 2018 (152)
72 ILLUMINA ss3634940537 Oct 12, 2018 (152)
73 ILLUMINA ss3635727109 Oct 12, 2018 (152)
74 ILLUMINA ss3636639142 Oct 12, 2018 (152)
75 ILLUMINA ss3637479590 Oct 12, 2018 (152)
76 ILLUMINA ss3638471019 Oct 12, 2018 (152)
77 ILLUMINA ss3639238023 Oct 12, 2018 (152)
78 ILLUMINA ss3639639299 Oct 12, 2018 (152)
79 ILLUMINA ss3640647833 Oct 12, 2018 (152)
80 ILLUMINA ss3643423642 Oct 12, 2018 (152)
81 ILLUMINA ss3644842570 Oct 12, 2018 (152)
82 ILLUMINA ss3652828575 Oct 12, 2018 (152)
83 ILLUMINA ss3654056158 Oct 12, 2018 (152)
84 EGCUT_WGS ss3662026991 Jul 13, 2019 (153)
85 ILLUMINA ss3726108419 Jul 13, 2019 (153)
86 ACPOP ss3730835362 Jul 13, 2019 (153)
87 ILLUMINA ss3744230066 Jul 13, 2019 (153)
88 ILLUMINA ss3745240842 Jul 13, 2019 (153)
89 EVA ss3761369068 Jul 13, 2019 (153)
90 PAGE_CC ss3771104972 Jul 13, 2019 (153)
91 ILLUMINA ss3772735541 Jul 13, 2019 (153)
92 KHV_HUMAN_GENOMES ss3804505604 Jul 13, 2019 (153)
93 EVA ss3828360500 Apr 25, 2020 (154)
94 EVA ss3837611466 Apr 25, 2020 (154)
95 EVA ss3843045404 Apr 25, 2020 (154)
96 HGDP ss3847740506 Apr 25, 2020 (154)
97 SGDP_PRJ ss3858168454 Apr 25, 2020 (154)
98 KRGDB ss3904309663 Apr 25, 2020 (154)
99 EVA ss3984523348 Apr 26, 2021 (155)
100 EVA ss4017131817 Apr 26, 2021 (155)
101 TOPMED ss4602179062 Apr 26, 2021 (155)
102 TOMMO_GENOMICS ss5164105122 Apr 26, 2021 (155)
103 1000Genomes NC_000004.11 - 8579758 Oct 12, 2018 (152)
104 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 8579758 Oct 12, 2018 (152)
105 Chileans NC_000004.11 - 8579758 Apr 25, 2020 (154)
106 Genetic variation in the Estonian population NC_000004.11 - 8579758 Oct 12, 2018 (152)
107 The Danish reference pan genome NC_000004.11 - 8579758 Apr 25, 2020 (154)
108 gnomAD - Genomes NC_000004.12 - 8578031 Apr 26, 2021 (155)
109 Genome of the Netherlands Release 5 NC_000004.11 - 8579758 Apr 25, 2020 (154)
110 HGDP-CEPH-db Supplement 1 NC_000004.10 - 8630658 Apr 25, 2020 (154)
111 HapMap NC_000004.12 - 8578031 Apr 25, 2020 (154)
112 KOREAN population from KRGDB NC_000004.11 - 8579758 Apr 25, 2020 (154)
113 Northern Sweden NC_000004.11 - 8579758 Jul 13, 2019 (153)
114 The PAGE Study NC_000004.12 - 8578031 Jul 13, 2019 (153)
115 CNV burdens in cranial meningiomas NC_000004.11 - 8579758 Apr 26, 2021 (155)
116 Qatari NC_000004.11 - 8579758 Apr 25, 2020 (154)
117 SGDP_PRJ NC_000004.11 - 8579758 Apr 25, 2020 (154)
118 Siberian NC_000004.11 - 8579758 Apr 25, 2020 (154)
119 8.3KJPN NC_000004.11 - 8579758 Apr 26, 2021 (155)
120 TopMed NC_000004.12 - 8578031 Apr 26, 2021 (155)
121 UK 10K study - Twins NC_000004.11 - 8579758 Oct 12, 2018 (152)
122 A Vietnamese Genetic Variation Database NC_000004.11 - 8579758 Jul 13, 2019 (153)
123 ALFA NC_000004.12 - 8578031 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)
rs60885113 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
10747828835 NC_000004.12:8578030:C:G NC_000004.12:8578030:C:G
ss3639238023, ss3639639299 NC_000004.9:8697828:C:T NC_000004.12:8578030:C:T (self)
418398, ss66477581, ss76290351, ss173143702, ss210565482, ss211355109, ss479825810, ss825385728, ss1589235146, ss1712650145, ss3643423642, ss3847740506 NC_000004.10:8630657:C:T NC_000004.12:8578030:C:T (self)
19690609, 10969793, 308310, 7765239, 6570750, 4823276, 11487057, 4120227, 72707, 5019673, 10185434, 2689099, 22074429, 10969793, 2397068, ss220732860, ss232252583, ss479832995, ss480422777, ss484711376, ss536815365, ss651055087, ss778790796, ss782802447, ss783767899, ss832055457, ss832748153, ss834250839, ss979740541, ss1071260815, ss1308344963, ss1429764892, ss1580405811, ss1609366293, ss1652360326, ss1752535215, ss1800993091, ss1922977743, ss1946109864, ss1958659271, ss2022061657, ss2095142169, ss2150172745, ss2427731640, ss2634080410, ss2705609992, ss2710998516, ss2805390533, ss2985285714, ss2985908667, ss2994100956, ss3022345701, ss3345532894, ss3625837236, ss3628898840, ss3632019131, ss3633325306, ss3634043950, ss3634940537, ss3635727109, ss3636639142, ss3637479590, ss3638471019, ss3640647833, ss3644842570, ss3652828575, ss3654056158, ss3662026991, ss3730835362, ss3744230066, ss3745240842, ss3761369068, ss3772735541, ss3828360500, ss3837611466, ss3858168454, ss3904309663, ss3984523348, ss4017131817, ss5164105122 NC_000004.11:8579757:C:T NC_000004.12:8578030:C:T (self)
139642259, 2552944, 326441, 274760605, 439556618, 10747828835, ss2260300788, ss3024800851, ss3419781764, ss3726108419, ss3771104972, ss3804505604, ss3843045404, ss4602179062 NC_000004.12:8578030:C:T NC_000004.12:8578030:C:T (self)
ss1307, ss66735240, ss67041311, ss67365920, ss68890298, ss70416454, ss70585808, ss71128706, ss75707619, ss83344541, ss121604457, ss153284822, ss159235820, ss160301484, ss170235771, ss172251294 NT_006051.18:7101111:C:T NC_000004.12:8578030:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs1282
PMID Title Author Year Journal
16389273 Association analysis of the chromosome 4p-located G protein-coupled receptor 78 (GPR78) gene in bipolar affective disorder and schizophrenia. Underwood SL et al. 2006 Molecular psychiatry
23077511 Localising loci underlying complex trait variation using Regional Genomic Relationship Mapping. Nagamine Y et al. 2012 PloS one
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.post629+eb05767