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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.

rs244072

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:44630665 (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=0.177124 (46883/264690, TOPMED)
G=0.170032 (23831/140156, GnomAD)
G=0.09835 (5508/56002, ALFA) (+ 18 more)
G=0.11247 (3178/28256, 14KJPN)
G=0.11402 (1911/16760, 8.3KJPN)
G=0.2072 (1327/6404, 1000G_30x)
G=0.2017 (1010/5008, 1000G)
G=0.0746 (334/4480, Estonian)
G=0.1048 (404/3854, ALSPAC)
G=0.0965 (358/3708, TWINSUK)
G=0.1573 (461/2930, KOREAN)
G=0.1659 (304/1832, Korea1K)
G=0.099 (99/998, GoNL)
G=0.176 (139/792, PRJEB37584)
G=0.098 (59/600, NorthernSweden)
G=0.186 (59/318, HapMap)
G=0.125 (27/216, Qatari)
G=0.162 (35/216, Vietnamese)
A=0.453 (77/170, SGDP_PRJ)
G=0.15 (6/40, GENOME_DK)
A=0.36 (5/14, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ADA : Intron Variant
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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 56002 A=0.90165 C=0.00000, G=0.09835
European Sub 41780 A=0.91726 C=0.00000, G=0.08274
African Sub 3992 A=0.7655 C=0.0000, G=0.2345
African Others Sub 140 A=0.707 C=0.000, G=0.293
African American Sub 3852 A=0.7677 C=0.0000, G=0.2323
Asian Sub 428 A=0.864 C=0.000, G=0.136
East Asian Sub 366 A=0.858 C=0.000, G=0.142
Other Asian Sub 62 A=0.90 C=0.00, G=0.10
Latin American 1 Sub 548 A=0.823 C=0.000, G=0.177
Latin American 2 Sub 4846 A=0.8960 C=0.0000, G=0.1040
South Asian Sub 154 A=0.890 C=0.000, G=0.110
Other Sub 4254 A=0.8968 C=0.0000, G=0.1032


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=0.822876 G=0.177124
gnomAD - Genomes Global Study-wide 140156 A=0.829968 G=0.170032
gnomAD - Genomes European Sub 75942 A=0.90390 G=0.09610
gnomAD - Genomes African Sub 41950 A=0.68131 G=0.31869
gnomAD - Genomes American Sub 13658 A=0.85181 G=0.14819
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.9040 G=0.0960
gnomAD - Genomes East Asian Sub 3132 A=0.8480 G=0.1520
gnomAD - Genomes Other Sub 2150 A=0.8395 G=0.1605
Allele Frequency Aggregator Total Global 56002 A=0.90165 C=0.00000, G=0.09835
Allele Frequency Aggregator European Sub 41780 A=0.91726 C=0.00000, G=0.08274
Allele Frequency Aggregator Latin American 2 Sub 4846 A=0.8960 C=0.0000, G=0.1040
Allele Frequency Aggregator Other Sub 4254 A=0.8968 C=0.0000, G=0.1032
Allele Frequency Aggregator African Sub 3992 A=0.7655 C=0.0000, G=0.2345
Allele Frequency Aggregator Latin American 1 Sub 548 A=0.823 C=0.000, G=0.177
Allele Frequency Aggregator Asian Sub 428 A=0.864 C=0.000, G=0.136
Allele Frequency Aggregator South Asian Sub 154 A=0.890 C=0.000, G=0.110
14KJPN JAPANESE Study-wide 28256 A=0.88753 G=0.11247
8.3KJPN JAPANESE Study-wide 16760 A=0.88598 G=0.11402
1000Genomes_30x Global Study-wide 6404 A=0.7928 G=0.2072
1000Genomes_30x African Sub 1786 A=0.6165 G=0.3835
1000Genomes_30x Europe Sub 1266 A=0.9021 G=0.0979
1000Genomes_30x South Asian Sub 1202 A=0.8178 G=0.1822
1000Genomes_30x East Asian Sub 1170 A=0.8359 G=0.1641
1000Genomes_30x American Sub 980 A=0.891 G=0.109
1000Genomes Global Study-wide 5008 A=0.7983 G=0.2017
1000Genomes African Sub 1322 A=0.6241 G=0.3759
1000Genomes East Asian Sub 1008 A=0.8383 G=0.1617
1000Genomes Europe Sub 1006 A=0.9026 G=0.0974
1000Genomes South Asian Sub 978 A=0.822 G=0.178
1000Genomes American Sub 694 A=0.888 G=0.112
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9254 G=0.0746
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8952 G=0.1048
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9035 G=0.0965
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.8427 G=0.1573
Korean Genome Project KOREAN Study-wide 1832 A=0.8341 G=0.1659
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.901 G=0.099
CNV burdens in cranial meningiomas Global Study-wide 792 A=0.824 G=0.176
CNV burdens in cranial meningiomas CRM Sub 792 A=0.824 G=0.176
Northern Sweden ACPOP Study-wide 600 A=0.902 G=0.098
HapMap Global Study-wide 318 A=0.814 G=0.186
HapMap African Sub 116 A=0.621 G=0.379
HapMap American Sub 116 A=0.922 G=0.078
HapMap Asian Sub 86 A=0.93 G=0.07
Qatari Global Study-wide 216 A=0.875 G=0.125
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.838 G=0.162
SGDP_PRJ Global Study-wide 170 A=0.453 G=0.547
The Danish reference pan genome Danish Study-wide 40 A=0.85 G=0.15
Siberian Global Study-wide 14 A=0.36 G=0.64
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.44630665A>C
GRCh38.p14 chr 20 NC_000020.11:g.44630665A>G
GRCh37.p13 chr 20 NC_000020.10:g.43259306A>C
GRCh37.p13 chr 20 NC_000020.10:g.43259306A>G
ADA RefSeqGene (LRG_16) NG_007385.1:g.26071T>G
ADA RefSeqGene (LRG_16) NG_007385.1:g.26071T>C
LOC107303343 genomic region NG_046759.1:g.1762A>C
LOC107303343 genomic region NG_046759.1:g.1762A>G
Gene: ADA, adenosine deaminase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADA transcript variant 1 NM_000022.4:c.96-1496T>G N/A Intron Variant
ADA transcript variant 2 NM_001322050.2:c.-194-149…

NM_001322050.2:c.-194-1496T>G

 		N/A Intron Variant
ADA transcript variant 3 NM_001322051.2:c.96-1496T…

NM_001322051.2:c.96-1496T>G

 		N/A Intron Variant
ADA transcript variant 4 NR_136160.2: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
GRCh38.p14 chr 20 NC_000020.11:g.44630665= NC_000020.11:g.44630665A>C NC_000020.11:g.44630665A>G
GRCh37.p13 chr 20 NC_000020.10:g.43259306= NC_000020.10:g.43259306A>C NC_000020.10:g.43259306A>G
ADA RefSeqGene (LRG_16) NG_007385.1:g.26071= NG_007385.1:g.26071T>G NG_007385.1:g.26071T>C
LOC107303343 genomic region NG_046759.1:g.1762= NG_046759.1:g.1762A>C NG_046759.1:g.1762A>G
ADA transcript NM_000022.2:c.96-1496= NM_000022.2:c.96-1496T>G NM_000022.2:c.96-1496T>C
ADA transcript variant 1 NM_000022.4:c.96-1496= NM_000022.4:c.96-1496T>G NM_000022.4:c.96-1496T>C
ADA transcript variant 2 NM_001322050.2:c.-194-1496= NM_001322050.2:c.-194-1496T>G NM_001322050.2:c.-194-1496T>C
ADA transcript variant 3 NM_001322051.2:c.96-1496= NM_001322051.2:c.96-1496T>G NM_001322051.2:c.96-1496T>C
ADA transcript variant X1 XM_005260236.1:c.96-1496= XM_005260236.1:c.96-1496T>G XM_005260236.1:c.96-1496T>C
ADA transcript variant X2 XM_005260237.1:c.96-1496= XM_005260237.1:c.96-1496T>G XM_005260237.1:c.96-1496T>C
ADA transcript variant X3 XM_005260238.1:c.-194-1496= XM_005260238.1:c.-194-1496T>G XM_005260238.1:c.-194-1496T>C
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#.

79 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss313818 Jul 12, 2000 (79)
2 SC_JCM ss520428 Jul 16, 2000 (80)
3 SC_JCM ss3397525 Sep 28, 2001 (100)
4 PERLEGEN ss69242328 May 16, 2007 (127)
5 HGSV ss80278743 Dec 14, 2007 (130)
6 BGI ss103759334 Dec 01, 2009 (131)
7 1000GENOMES ss113366390 Jan 25, 2009 (130)
8 ILLUMINA-UK ss117554261 Feb 14, 2009 (130)
9 GMI ss156458465 Dec 01, 2009 (131)
10 ILLUMINA ss160548250 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss169680299 Jul 04, 2010 (132)
12 BUSHMAN ss203897472 Jul 04, 2010 (132)
13 1000GENOMES ss228367988 Jul 14, 2010 (132)
14 1000GENOMES ss237842751 Jul 15, 2010 (132)
15 1000GENOMES ss244011243 Jul 15, 2010 (132)
16 BL ss255659628 May 09, 2011 (134)
17 GMI ss283391154 May 04, 2012 (137)
18 ILLUMINA ss479966379 May 04, 2012 (137)
19 ILLUMINA ss481407242 Sep 08, 2015 (146)
20 ILLUMINA ss484194677 May 04, 2012 (137)
21 ILLUMINA ss533431475 Sep 08, 2015 (146)
22 TISHKOFF ss566268501 Apr 25, 2013 (138)
23 SSMP ss662150342 Apr 25, 2013 (138)
24 ILLUMINA ss779685381 Sep 08, 2015 (146)
25 ILLUMINA ss781113240 Sep 08, 2015 (146)
26 ILLUMINA ss835159154 Sep 08, 2015 (146)
27 EVA-GONL ss994755202 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1082228686 Aug 21, 2014 (142)
29 1000GENOMES ss1364911441 Aug 21, 2014 (142)
30 EVA_GENOME_DK ss1579518297 Apr 01, 2015 (144)
31 EVA_UK10K_ALSPAC ss1638854899 Apr 01, 2015 (144)
32 EVA_UK10K_TWINSUK ss1681848932 Apr 01, 2015 (144)
33 EVA_DECODE ss1698815584 Apr 01, 2015 (144)
34 HAMMER_LAB ss1809515842 Sep 08, 2015 (146)
35 WEILL_CORNELL_DGM ss1938269605 Feb 12, 2016 (147)
36 GENOMED ss1969139071 Jul 19, 2016 (147)
37 JJLAB ss2029914503 Sep 14, 2016 (149)
38 ILLUMINA ss2094918497 Dec 20, 2016 (150)
39 ILLUMINA ss2095114757 Dec 20, 2016 (150)
40 USC_VALOUEV ss2158481917 Dec 20, 2016 (150)
41 HUMAN_LONGEVITY ss2243050001 Dec 20, 2016 (150)
42 ILLUMINA ss2633801971 Nov 08, 2017 (151)
43 GRF ss2704174142 Nov 08, 2017 (151)
44 GNOMAD ss2967823902 Nov 08, 2017 (151)
45 SWEGEN ss3018237668 Nov 08, 2017 (151)
46 BIOINF_KMB_FNS_UNIBA ss3028790005 Nov 08, 2017 (151)
47 ILLUMINA ss3628399171 Oct 12, 2018 (152)
48 ILLUMINA ss3631758318 Oct 12, 2018 (152)
49 ILLUMINA ss3636530983 Oct 12, 2018 (152)
50 ILLUMINA ss3642183710 Oct 12, 2018 (152)
51 ILLUMINA ss3652578106 Oct 12, 2018 (152)
52 EGCUT_WGS ss3684924123 Jul 13, 2019 (153)
53 EVA_DECODE ss3707014078 Jul 13, 2019 (153)
54 ACPOP ss3743421737 Jul 13, 2019 (153)
55 EVA ss3758685568 Jul 13, 2019 (153)
56 PACBIO ss3788656097 Jul 13, 2019 (153)
57 PACBIO ss3793545983 Jul 13, 2019 (153)
58 PACBIO ss3798432930 Jul 13, 2019 (153)
59 KHV_HUMAN_GENOMES ss3821846458 Jul 13, 2019 (153)
60 EVA ss3835688509 Apr 27, 2020 (154)
61 SGDP_PRJ ss3889173515 Apr 27, 2020 (154)
62 KRGDB ss3939469313 Apr 27, 2020 (154)
63 KOGIC ss3982350029 Apr 27, 2020 (154)
64 EVA ss3984750406 Apr 27, 2021 (155)
65 TOPMED ss5089855471 Apr 27, 2021 (155)
66 TOMMO_GENOMICS ss5229808055 Apr 27, 2021 (155)
67 1000G_HIGH_COVERAGE ss5308920955 Oct 16, 2022 (156)
68 EVA ss5316009730 Oct 16, 2022 (156)
69 EVA ss5437634970 Oct 16, 2022 (156)
70 HUGCELL_USP ss5501187733 Oct 16, 2022 (156)
71 EVA ss5512226510 Oct 16, 2022 (156)
72 1000G_HIGH_COVERAGE ss5615443049 Oct 16, 2022 (156)
73 SANFORD_IMAGENETICS ss5663280173 Oct 16, 2022 (156)
74 TOMMO_GENOMICS ss5789656650 Oct 16, 2022 (156)
75 YY_MCH ss5818073254 Oct 16, 2022 (156)
76 EVA ss5845740452 Oct 16, 2022 (156)
77 EVA ss5853154555 Oct 16, 2022 (156)
78 EVA ss5923569855 Oct 16, 2022 (156)
79 EVA ss5958201609 Oct 16, 2022 (156)
80 1000Genomes NC_000020.10 - 43259306 Oct 12, 2018 (152)
81 1000Genomes_30x NC_000020.11 - 44630665 Oct 16, 2022 (156)
82 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 43259306 Oct 12, 2018 (152)
83 Genetic variation in the Estonian population NC_000020.10 - 43259306 Oct 12, 2018 (152)
84 The Danish reference pan genome NC_000020.10 - 43259306 Apr 27, 2020 (154)
85 gnomAD - Genomes NC_000020.11 - 44630665 Apr 27, 2021 (155)
86 Genome of the Netherlands Release 5 NC_000020.10 - 43259306 Apr 27, 2020 (154)
87 HapMap NC_000020.11 - 44630665 Apr 27, 2020 (154)
88 KOREAN population from KRGDB NC_000020.10 - 43259306 Apr 27, 2020 (154)
89 Korean Genome Project NC_000020.11 - 44630665 Apr 27, 2020 (154)
90 Northern Sweden NC_000020.10 - 43259306 Jul 13, 2019 (153)
91 CNV burdens in cranial meningiomas NC_000020.10 - 43259306 Apr 27, 2021 (155)
92 Qatari NC_000020.10 - 43259306 Apr 27, 2020 (154)
93 SGDP_PRJ NC_000020.10 - 43259306 Apr 27, 2020 (154)
94 Siberian NC_000020.10 - 43259306 Apr 27, 2020 (154)
95 8.3KJPN NC_000020.10 - 43259306 Apr 27, 2021 (155)
96 14KJPN NC_000020.11 - 44630665 Oct 16, 2022 (156)
97 TopMed NC_000020.11 - 44630665 Apr 27, 2021 (155)
98 UK 10K study - Twins NC_000020.10 - 43259306 Oct 12, 2018 (152)
99 A Vietnamese Genetic Variation Database NC_000020.10 - 43259306 Jul 13, 2019 (153)
100 ALFA NC_000020.11 - 44630665 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)
rs57486118 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
12891467357 NC_000020.11:44630664:A:C NC_000020.11:44630664:A:C (self)
ss80278743, ss113366390, ss117554261, ss169680299, ss203897472, ss255659628, ss283391154, ss484194677, ss1698815584, ss2094918497 NC_000020.9:42692719:A:G NC_000020.11:44630664:A:G (self)
78379430, 43389451, 30662371, 5683236, 19327252, 46646707, 16706602, 299976, 20311527, 41190495, 10998271, 87777362, 43389451, 9571999, ss228367988, ss237842751, ss244011243, ss479966379, ss481407242, ss533431475, ss566268501, ss662150342, ss779685381, ss781113240, ss835159154, ss994755202, ss1082228686, ss1364911441, ss1579518297, ss1638854899, ss1681848932, ss1809515842, ss1938269605, ss1969139071, ss2029914503, ss2095114757, ss2158481917, ss2633801971, ss2704174142, ss2967823902, ss3018237668, ss3628399171, ss3631758318, ss3636530983, ss3642183710, ss3652578106, ss3684924123, ss3743421737, ss3758685568, ss3788656097, ss3793545983, ss3798432930, ss3835688509, ss3889173515, ss3939469313, ss3984750406, ss5229808055, ss5316009730, ss5437634970, ss5512226510, ss5663280173, ss5845740452, ss5958201609 NC_000020.10:43259305:A:G NC_000020.11:44630664:A:G (self)
102968984, 552882004, 2129246, 38728030, 123493754, 364964416, 12891467357, ss2243050001, ss3028790005, ss3707014078, ss3821846458, ss3982350029, ss5089855471, ss5308920955, ss5501187733, ss5615443049, ss5789656650, ss5818073254, ss5853154555, ss5923569855 NC_000020.11:44630664:A:G NC_000020.11:44630664:A:G (self)
ss313818, ss520428, ss3397525, ss69242328, ss103759334, ss156458465, ss160548250 NT_011362.10:13455397:A:G NC_000020.11:44630664: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.

2 citations for rs244072
PMID Title Author Year Journal
22253295 Associations between genes in the one-carbon metabolism pathway and advanced colorectal adenoma risk in individuals with low folate intake. Han SS et al. 2012 Cancer epidemiology, biomarkers & prevention
33007809 A Single Nucleotide ADA Genetic Variant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment. Stampanoni Bassi M et al. 2020 Genes
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