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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.

rs6036446

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:314272 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.168858 (44695/264690, TOPMED)
G=0.158013 (22131/140058, GnomAD)
G=0.21703 (16908/77906, PAGE_STUDY) (+ 18 more)
G=0.10372 (2931/28258, 14KJPN)
G=0.09607 (2219/23098, ALFA)
G=0.10095 (1692/16760, 8.3KJPN)
G=0.1866 (1195/6404, 1000G_30x)
G=0.1849 (926/5008, 1000G)
G=0.0451 (202/4480, Estonian)
G=0.0664 (256/3854, ALSPAC)
G=0.0647 (240/3708, TWINSUK)
G=0.1072 (314/2930, KOREAN)
G=0.1081 (198/1832, Korea1K)
G=0.054 (54/998, GoNL)
G=0.062 (37/600, NorthernSweden)
G=0.153 (33/216, Qatari)
G=0.079 (17/214, Vietnamese)
A=0.471 (49/104, SGDP_PRJ)
G=0.03 (1/40, GENOME_DK)
A=0.5 (3/6, Siberian)
G=0.5 (3/6, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 23098 A=0.90393 C=0.00000, G=0.09607
European Sub 18658 A=0.93772 C=0.00000, G=0.06228
African Sub 2654 A=0.6839 C=0.0000, G=0.3161
African Others Sub 100 A=0.66 C=0.00, G=0.34
African American Sub 2554 A=0.6848 C=0.0000, G=0.3152
Asian Sub 146 A=0.918 C=0.000, G=0.082
East Asian Sub 120 A=0.917 C=0.000, G=0.083
Other Asian Sub 26 A=0.92 C=0.00, G=0.08
Latin American 1 Sub 146 A=0.822 C=0.000, G=0.178
Latin American 2 Sub 610 A=0.902 C=0.000, G=0.098
South Asian Sub 104 A=0.942 C=0.000, G=0.058
Other Sub 780 A=0.854 C=0.000, G=0.146


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=0.831142 G=0.168858
gnomAD - Genomes Global Study-wide 140058 A=0.841987 G=0.158013
gnomAD - Genomes European Sub 75908 A=0.93750 G=0.06250
gnomAD - Genomes African Sub 41938 A=0.64741 G=0.35259
gnomAD - Genomes American Sub 13630 A=0.87865 G=0.12135
gnomAD - Genomes Ashkenazi Jewish Sub 3316 A=0.9122 G=0.0878
gnomAD - Genomes East Asian Sub 3120 A=0.8978 G=0.1022
gnomAD - Genomes Other Sub 2146 A=0.8434 G=0.1566
The PAGE Study Global Study-wide 77906 A=0.78297 G=0.21703
The PAGE Study AfricanAmerican Sub 32090 A=0.65229 G=0.34771
The PAGE Study Mexican Sub 10736 A=0.90108 G=0.09892
The PAGE Study Asian Sub 8220 A=0.8987 G=0.1013
The PAGE Study PuertoRican Sub 7864 A=0.8262 G=0.1738
The PAGE Study NativeHawaiian Sub 4490 A=0.9461 G=0.0539
The PAGE Study Cuban Sub 4212 A=0.8590 G=0.1410
The PAGE Study Dominican Sub 3788 A=0.7674 G=0.2326
The PAGE Study CentralAmerican Sub 2444 A=0.8740 G=0.1260
The PAGE Study SouthAmerican Sub 1962 A=0.8812 G=0.1188
The PAGE Study NativeAmerican Sub 1252 A=0.8890 G=0.1110
The PAGE Study SouthAsian Sub 848 A=0.893 G=0.107
14KJPN JAPANESE Study-wide 28258 A=0.89628 G=0.10372
Allele Frequency Aggregator Total Global 23098 A=0.90393 C=0.00000, G=0.09607
Allele Frequency Aggregator European Sub 18658 A=0.93772 C=0.00000, G=0.06228
Allele Frequency Aggregator African Sub 2654 A=0.6839 C=0.0000, G=0.3161
Allele Frequency Aggregator Other Sub 780 A=0.854 C=0.000, G=0.146
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.902 C=0.000, G=0.098
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.822 C=0.000, G=0.178
Allele Frequency Aggregator Asian Sub 146 A=0.918 C=0.000, G=0.082
Allele Frequency Aggregator South Asian Sub 104 A=0.942 C=0.000, G=0.058
8.3KJPN JAPANESE Study-wide 16760 A=0.89905 G=0.10095
1000Genomes_30x Global Study-wide 6404 A=0.8134 G=0.1866
1000Genomes_30x African Sub 1786 A=0.6193 G=0.3807
1000Genomes_30x Europe Sub 1266 A=0.9186 G=0.0814
1000Genomes_30x South Asian Sub 1202 A=0.8677 G=0.1323
1000Genomes_30x East Asian Sub 1170 A=0.9068 G=0.0932
1000Genomes_30x American Sub 980 A=0.853 G=0.147
1000Genomes Global Study-wide 5008 A=0.8151 G=0.1849
1000Genomes African Sub 1322 A=0.6082 G=0.3918
1000Genomes East Asian Sub 1008 A=0.8998 G=0.1002
1000Genomes Europe Sub 1006 A=0.9225 G=0.0775
1000Genomes South Asian Sub 978 A=0.864 G=0.136
1000Genomes American Sub 694 A=0.862 G=0.138
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9549 G=0.0451
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9336 G=0.0664
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9353 G=0.0647
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.8928 G=0.1072
Korean Genome Project KOREAN Study-wide 1832 A=0.8919 G=0.1081
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.946 G=0.054
Northern Sweden ACPOP Study-wide 600 A=0.938 G=0.062
Qatari Global Study-wide 216 A=0.847 G=0.153
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.921 G=0.079
SGDP_PRJ Global Study-wide 104 A=0.471 G=0.529
The Danish reference pan genome Danish Study-wide 40 A=0.97 G=0.03
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 20 NC_000020.11:g.314272A>C
GRCh38.p14 chr 20 NC_000020.11:g.314272A>G
GRCh37.p13 chr 20 NC_000020.10:g.294916A>C
GRCh37.p13 chr 20 NC_000020.10:g.294916A>G
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
GRCh38.p14 chr 20 NC_000020.11:g.314272= NC_000020.11:g.314272A>C NC_000020.11:g.314272A>G
GRCh37.p13 chr 20 NC_000020.10:g.294916= NC_000020.10:g.294916A>C NC_000020.10:g.294916A>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#.

64 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss8343947 Apr 21, 2003 (114)
2 CSHL-HAPMAP ss17695900 Feb 27, 2004 (120)
3 ABI ss41413586 Mar 14, 2006 (126)
4 ENSEMBL ss161313874 Dec 01, 2009 (131)
5 COMPLETE_GENOMICS ss168834601 Jul 04, 2010 (132)
6 BUSHMAN ss203804751 Jul 04, 2010 (132)
7 1000GENOMES ss211984297 Jul 14, 2010 (132)
8 1000GENOMES ss228211740 Jul 14, 2010 (132)
9 1000GENOMES ss237730719 Jul 15, 2010 (132)
10 1000GENOMES ss243924175 Jul 15, 2010 (132)
11 GMI ss283269804 May 04, 2012 (137)
12 PJP ss292560094 May 09, 2011 (134)
13 ILLUMINA ss479207859 May 04, 2012 (137)
14 ILLUMINA ss484174799 May 04, 2012 (137)
15 TISHKOFF ss566083891 Apr 25, 2013 (138)
16 SSMP ss661954775 Apr 25, 2013 (138)
17 ILLUMINA ss780924007 Sep 08, 2015 (146)
18 EVA-GONL ss994458871 Aug 21, 2014 (142)
19 JMKIDD_LAB ss1082011076 Aug 21, 2014 (142)
20 1000GENOMES ss1363772722 Aug 21, 2014 (142)
21 EVA_GENOME_DK ss1579403456 Apr 01, 2015 (144)
22 EVA_UK10K_ALSPAC ss1638252858 Apr 01, 2015 (144)
23 EVA_UK10K_TWINSUK ss1681246891 Apr 01, 2015 (144)
24 EVA_DECODE ss1698512387 Apr 01, 2015 (144)
25 HAMMER_LAB ss1809384780 Sep 08, 2015 (146)
26 WEILL_CORNELL_DGM ss1937967460 Feb 12, 2016 (147)
27 ILLUMINA ss1959890280 Feb 12, 2016 (147)
28 GENOMED ss1969071595 Jul 19, 2016 (147)
29 JJLAB ss2029758576 Sep 14, 2016 (149)
30 USC_VALOUEV ss2158313023 Dec 20, 2016 (150)
31 HUMAN_LONGEVITY ss2240726700 Dec 20, 2016 (150)
32 SYSTEMSBIOZJU ss2629377092 Nov 08, 2017 (151)
33 ILLUMINA ss2633765659 Nov 08, 2017 (151)
34 GRF ss2703984474 Nov 08, 2017 (151)
35 GNOMAD ss2964621366 Nov 08, 2017 (151)
36 SWEGEN ss3017747010 Nov 08, 2017 (151)
37 ILLUMINA ss3022092302 Nov 08, 2017 (151)
38 BIOINF_KMB_FNS_UNIBA ss3028711025 Nov 08, 2017 (151)
39 CSHL ss3352381229 Nov 08, 2017 (151)
40 ILLUMINA ss3642167899 Oct 12, 2018 (152)
41 ILLUMINA ss3652545766 Oct 12, 2018 (152)
42 EGCUT_WGS ss3684459470 Jul 13, 2019 (153)
43 EVA_DECODE ss3706409097 Jul 13, 2019 (153)
44 ACPOP ss3743180868 Jul 13, 2019 (153)
45 EVA ss3758328457 Jul 13, 2019 (153)
46 PAGE_CC ss3772030095 Jul 13, 2019 (153)
47 KHV_HUMAN_GENOMES ss3821501497 Jul 13, 2019 (153)
48 EVA ss3835546056 Apr 27, 2020 (154)
49 SGDP_PRJ ss3888574436 Apr 27, 2020 (154)
50 KRGDB ss3938751472 Apr 27, 2020 (154)
51 KOGIC ss3981682068 Apr 27, 2020 (154)
52 TOPMED ss5079789771 Apr 26, 2021 (155)
53 TOMMO_GENOMICS ss5228513698 Apr 26, 2021 (155)
54 1000G_HIGH_COVERAGE ss5307826784 Oct 13, 2022 (156)
55 EVA ss5435793383 Oct 13, 2022 (156)
56 HUGCELL_USP ss5500251488 Oct 13, 2022 (156)
57 1000G_HIGH_COVERAGE ss5613785758 Oct 13, 2022 (156)
58 SANFORD_IMAGENETICS ss5662715133 Oct 13, 2022 (156)
59 TOMMO_GENOMICS ss5787407698 Oct 13, 2022 (156)
60 YY_MCH ss5817750496 Oct 13, 2022 (156)
61 EVA ss5845339840 Oct 13, 2022 (156)
62 EVA ss5853035059 Oct 13, 2022 (156)
63 EVA ss5922378444 Oct 13, 2022 (156)
64 EVA ss5957610862 Oct 13, 2022 (156)
65 1000Genomes NC_000020.10 - 294916 Oct 12, 2018 (152)
66 1000Genomes_30x NC_000020.11 - 314272 Oct 13, 2022 (156)
67 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 294916 Oct 12, 2018 (152)
68 Genetic variation in the Estonian population NC_000020.10 - 294916 Oct 12, 2018 (152)
69 The Danish reference pan genome NC_000020.10 - 294916 Apr 27, 2020 (154)
70 gnomAD - Genomes NC_000020.11 - 314272 Apr 26, 2021 (155)
71 Genome of the Netherlands Release 5 NC_000020.10 - 294916 Apr 27, 2020 (154)
72 KOREAN population from KRGDB NC_000020.10 - 294916 Apr 27, 2020 (154)
73 Korean Genome Project NC_000020.11 - 314272 Apr 27, 2020 (154)
74 Northern Sweden NC_000020.10 - 294916 Jul 13, 2019 (153)
75 The PAGE Study NC_000020.11 - 314272 Jul 13, 2019 (153)
76 Qatari NC_000020.10 - 294916 Apr 27, 2020 (154)
77 SGDP_PRJ NC_000020.10 - 294916 Apr 27, 2020 (154)
78 Siberian NC_000020.10 - 294916 Apr 27, 2020 (154)
79 8.3KJPN NC_000020.10 - 294916 Apr 26, 2021 (155)
80 14KJPN NC_000020.11 - 314272 Oct 13, 2022 (156)
81 TopMed NC_000020.11 - 314272 Apr 26, 2021 (155)
82 UK 10K study - Twins NC_000020.10 - 294916 Oct 12, 2018 (152)
83 A Vietnamese Genetic Variation Database NC_000020.10 - 294916 Jul 13, 2019 (153)
84 ALFA NC_000020.11 - 314272 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
15470294489 NC_000020.11:314271:A:C NC_000020.11:314271:A:C (self)
ss168834601, ss203804751, ss211984297, ss283269804, ss292560094, ss484174799, ss1698512387 NC_000020.9:242915:A:G NC_000020.11:314271:A:G (self)
77202305, 42729595, 30197718, 5568395, 19039605, 45928866, 16465733, 20009382, 40591416, 10829377, 86483005, 42729595, 9433306, ss228211740, ss237730719, ss243924175, ss479207859, ss566083891, ss661954775, ss780924007, ss994458871, ss1082011076, ss1363772722, ss1579403456, ss1638252858, ss1681246891, ss1809384780, ss1937967460, ss1959890280, ss1969071595, ss2029758576, ss2158313023, ss2629377092, ss2633765659, ss2703984474, ss2964621366, ss3017747010, ss3022092302, ss3352381229, ss3642167899, ss3652545766, ss3684459470, ss3743180868, ss3758328457, ss3835546056, ss3888574436, ss3938751472, ss5228513698, ss5435793383, ss5662715133, ss5845339840, ss5957610862 NC_000020.10:294915:A:G NC_000020.11:314271:A:G (self)
101311693, 544426642, 38060069, 1251564, 121244802, 354898716, 15470294489, ss2240726700, ss3028711025, ss3706409097, ss3772030095, ss3821501497, ss3981682068, ss5079789771, ss5307826784, ss5500251488, ss5613785758, ss5787407698, ss5817750496, ss5853035059, ss5922378444 NC_000020.11:314271:A:G NC_000020.11:314271:A:G (self)
ss8343947, ss17695900, ss41413586, ss161313874 NT_011387.8:234915:A:G NC_000020.11:314271: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 rs6036446

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