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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.

rs2033962

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr2:157781929 (GRCh38.p12) 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=0.199470 (25047/125568, TOPMED)
A=0.18814 (5896/31338, GnomAD)
A=0.1894 (1621/8558, ALFA Project) (+ 13 more)
A=0.1725 (864/5008, 1000G)
A=0.1364 (611/4480, Estonian)
A=0.1793 (691/3854, ALSPAC)
A=0.1799 (667/3708, TWINSUK)
A=0.0717 (210/2930, KOREAN)
A=0.166 (166/998, GoNL)
A=0.270 (162/600, NorthernSweden)
A=0.107 (58/544, SGDP_PRJ)
A=0.189 (62/328, HapMap)
A=0.120 (26/216, Qatari)
A=0.080 (17/212, Vietnamese)
A=0.11 (6/54, Siberian)
A=0.12 (5/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ACVR1 : Intron Variant
Publications
4 citations
Genomic View
See rs on genome
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.p12 chr 2 NC_000002.12:g.157781929A>C
GRCh38.p12 chr 2 NC_000002.12:g.157781929A>G
GRCh38.p12 chr 2 NC_000002.12:g.157781929A>T
GRCh37.p13 chr 2 NC_000002.11:g.158638441A>C
GRCh37.p13 chr 2 NC_000002.11:g.158638441A>G
GRCh37.p13 chr 2 NC_000002.11:g.158638441A>T
ACVR1 RefSeqGene NG_008004.1:g.98183T>G
ACVR1 RefSeqGene NG_008004.1:g.98183T>C
ACVR1 RefSeqGene NG_008004.1:g.98183T>A
Gene: ACVR1, activin A receptor type 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ACVR1 transcript variant 1 NM_001105.5:c.68-1329T>G N/A Intron Variant
ACVR1 transcript variant 2 NM_001111067.4:c.68-1329T…

NM_001111067.4:c.68-1329T>G

N/A Intron Variant
ACVR1 transcript variant 3 NM_001347663.1:c.68-1329T…

NM_001347663.1:c.68-1329T>G

N/A Intron Variant
ACVR1 transcript variant 4 NM_001347664.1:c.68-1329T…

NM_001347664.1:c.68-1329T>G

N/A Intron Variant
ACVR1 transcript variant 5 NM_001347665.1:c.68-1329T…

NM_001347665.1:c.68-1329T>G

N/A Intron Variant
ACVR1 transcript variant 6 NM_001347666.1:c.68-1329T…

NM_001347666.1:c.68-1329T>G

N/A Intron Variant
ACVR1 transcript variant 7 NM_001347667.2:c.68-1329T…

NM_001347667.2:c.68-1329T>G

N/A Intron Variant
ACVR1 transcript variant X2 XM_006712825.4:c.68-1329T…

XM_006712825.4:c.68-1329T>G

N/A Intron Variant
ACVR1 transcript variant X1 XM_011512108.3:c.68-1329T…

XM_011512108.3:c.68-1329T>G

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

ALFA Allele Frequency (New)
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 13880 A=0.19957 C=0.80043, T=0.00000
European Sub 13056 A=0.18673 C=0.81327, T=0.00000
African Sub 314 A=0.697 C=0.303, T=0.000
African Others Sub 14 A=0.71 C=0.29, T=0.00
African American Sub 300 A=0.697 C=0.303, T=0.000
Asian Sub 4 A=0.0 C=1.0, T=0.0
East Asian Sub 2 A=0.0 C=1.0, T=0.0
Other Asian Sub 2 A=0.0 C=1.0, T=0.0
Latin American 1 Sub 4 A=1.0 C=0.0, T=0.0
Latin American 2 Sub 12 A=1.00 C=0.00, T=0.00
South Asian Sub 4 A=0.0 C=1.0, T=0.0
Other Sub 486 A=0.200 C=0.800, 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 125568 A=0.199470 C=0.800530
gnomAD - Genomes Global Study-wide 31338 A=0.18814 C=0.81186
gnomAD - Genomes European Sub 18880 A=0.16721 C=0.83279
gnomAD - Genomes African Sub 8676 A=0.2660 C=0.7340
gnomAD - Genomes East Asian Sub 1558 A=0.0629 C=0.9371
gnomAD - Genomes Other Sub 1088 A=0.1572 C=0.8428
gnomAD - Genomes American Sub 846 A=0.145 C=0.855
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=0.134 C=0.866
ALFA Total Global 8558 A=0.1894 C=0.8106
ALFA European Sub 8192 A=0.1885 C=0.8115
ALFA Other Sub 276 A=0.203 C=0.797
ALFA African Sub 82 A=0.26 C=0.74
ALFA South Asian Sub 4 A=0.0 C=1.0
ALFA Asian Sub 4 A=0.0 C=1.0
ALFA Latin American 1 Sub 0 A=0 C=0
ALFA Latin American 2 Sub 0 A=0 C=0
1000Genomes Global Study-wide 5008 A=0.1725 C=0.8275
1000Genomes African Sub 1322 A=0.2700 C=0.7300
1000Genomes East Asian Sub 1008 A=0.0714 C=0.9286
1000Genomes Europe Sub 1006 A=0.1750 C=0.8250
1000Genomes South Asian Sub 978 A=0.158 C=0.842
1000Genomes American Sub 694 A=0.150 C=0.850
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.1364 C=0.8636
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.1793 C=0.8207
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.1799 C=0.8201
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0717 C=0.9283, G=0.0000, T=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.166 C=0.834
Northern Sweden ACPOP Study-wide 600 A=0.270 C=0.730
SGDP_PRJ Global Study-wide 544 A=0.107 C=0.893
HapMap Global Study-wide 328 A=0.189 C=0.811
HapMap African Sub 120 A=0.250 C=0.750
HapMap American Sub 120 A=0.183 C=0.817
HapMap Asian Sub 88 A=0.11 C=0.89
Qatari Global Study-wide 216 A=0.120 C=0.880
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.080 C=0.920
Siberian Global Study-wide 54 A=0.11 C=0.89
The Danish reference pan genome Danish Study-wide 40 A=0.12 C=0.88
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.p12 chr 2 NC_000002.12:g.157781929= NC_000002.12:g.157781929A>C NC_000002.12:g.157781929A>G NC_000002.12:g.157781929A>T
GRCh37.p13 chr 2 NC_000002.11:g.158638441= NC_000002.11:g.158638441A>C NC_000002.11:g.158638441A>G NC_000002.11:g.158638441A>T
ACVR1 RefSeqGene NG_008004.1:g.98183= NG_008004.1:g.98183T>G NG_008004.1:g.98183T>C NG_008004.1:g.98183T>A
ACVR1 transcript variant 1 NM_001105.4:c.68-1329= NM_001105.4:c.68-1329T>G NM_001105.4:c.68-1329T>C NM_001105.4:c.68-1329T>A
ACVR1 transcript variant 1 NM_001105.5:c.68-1329= NM_001105.5:c.68-1329T>G NM_001105.5:c.68-1329T>C NM_001105.5:c.68-1329T>A
ACVR1 transcript variant 2 NM_001111067.2:c.68-1329= NM_001111067.2:c.68-1329T>G NM_001111067.2:c.68-1329T>C NM_001111067.2:c.68-1329T>A
ACVR1 transcript variant 2 NM_001111067.4:c.68-1329= NM_001111067.4:c.68-1329T>G NM_001111067.4:c.68-1329T>C NM_001111067.4:c.68-1329T>A
ACVR1 transcript variant 3 NM_001347663.1:c.68-1329= NM_001347663.1:c.68-1329T>G NM_001347663.1:c.68-1329T>C NM_001347663.1:c.68-1329T>A
ACVR1 transcript variant 4 NM_001347664.1:c.68-1329= NM_001347664.1:c.68-1329T>G NM_001347664.1:c.68-1329T>C NM_001347664.1:c.68-1329T>A
ACVR1 transcript variant 5 NM_001347665.1:c.68-1329= NM_001347665.1:c.68-1329T>G NM_001347665.1:c.68-1329T>C NM_001347665.1:c.68-1329T>A
ACVR1 transcript variant 6 NM_001347666.1:c.68-1329= NM_001347666.1:c.68-1329T>G NM_001347666.1:c.68-1329T>C NM_001347666.1:c.68-1329T>A
ACVR1 transcript variant 7 NM_001347667.2:c.68-1329= NM_001347667.2:c.68-1329T>G NM_001347667.2:c.68-1329T>C NM_001347667.2:c.68-1329T>A
ACVR1 transcript variant X1 XM_005246939.1:c.68-1329= XM_005246939.1:c.68-1329T>G XM_005246939.1:c.68-1329T>C XM_005246939.1:c.68-1329T>A
ACVR1 transcript variant X2 XM_005246940.1:c.68-1329= XM_005246940.1:c.68-1329T>G XM_005246940.1:c.68-1329T>C XM_005246940.1:c.68-1329T>A
ACVR1 transcript variant X2 XM_006712825.4:c.68-1329= XM_006712825.4:c.68-1329T>G XM_006712825.4:c.68-1329T>C XM_006712825.4:c.68-1329T>A
ACVR1 transcript variant X1 XM_011512108.3:c.68-1329= XM_011512108.3:c.68-1329T>G XM_011512108.3:c.68-1329T>C XM_011512108.3:c.68-1329T>A
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#.

70 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2943023 Apr 12, 2001 (94)
2 WI_SSAHASNP ss11445439 Jul 11, 2003 (116)
3 SC_SNP ss16302435 Feb 27, 2004 (120)
4 SSAHASNP ss21650216 Apr 05, 2004 (121)
5 PERLEGEN ss23251837 Sep 20, 2004 (123)
6 ABI ss44172854 Mar 14, 2006 (126)
7 HGSV ss83958518 Dec 14, 2007 (130)
8 BCMHGSC_JDW ss91408774 Mar 24, 2008 (129)
9 HUMANGENOME_JCVI ss96441007 Feb 04, 2009 (130)
10 BGI ss103615554 Dec 01, 2009 (131)
11 1000GENOMES ss110122849 Jan 24, 2009 (130)
12 1000GENOMES ss111154014 Jan 25, 2009 (130)
13 ILLUMINA-UK ss117937584 Feb 14, 2009 (130)
14 ENSEMBL ss136094111 Dec 01, 2009 (131)
15 ENSEMBL ss138562012 Dec 01, 2009 (131)
16 GMI ss157883941 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss164630205 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss165494445 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss167343408 Jul 04, 2010 (132)
20 BUSHMAN ss201262180 Jul 04, 2010 (132)
21 BCM-HGSC-SUB ss205642231 Jul 04, 2010 (132)
22 1000GENOMES ss219606206 Jul 14, 2010 (132)
23 1000GENOMES ss231433071 Jul 14, 2010 (132)
24 1000GENOMES ss238927231 Jul 15, 2010 (132)
25 BL ss253610428 May 09, 2011 (134)
26 GMI ss276749976 May 04, 2012 (137)
27 GMI ss284468706 Apr 25, 2013 (138)
28 PJP ss292408243 May 09, 2011 (134)
29 TISHKOFF ss555981720 Apr 25, 2013 (138)
30 SSMP ss649624071 Apr 25, 2013 (138)
31 EVA-GONL ss977546233 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1069633351 Aug 21, 2014 (142)
33 1000GENOMES ss1300056869 Aug 21, 2014 (142)
34 DDI ss1428793052 Apr 01, 2015 (144)
35 EVA_GENOME_DK ss1579160321 Apr 01, 2015 (144)
36 EVA_DECODE ss1586980929 Apr 01, 2015 (144)
37 EVA_UK10K_ALSPAC ss1604948791 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1647942824 Apr 01, 2015 (144)
39 HAMMER_LAB ss1797780908 Sep 08, 2015 (146)
40 WEILL_CORNELL_DGM ss1920799841 Feb 12, 2016 (147)
41 GENOMED ss1968931843 Jul 19, 2016 (147)
42 JJLAB ss2020929627 Sep 14, 2016 (149)
43 USC_VALOUEV ss2148995368 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2235803463 Dec 20, 2016 (150)
45 TOPMED ss2402198523 Dec 20, 2016 (150)
46 SYSTEMSBIOZJU ss2624969595 Nov 08, 2017 (151)
47 GRF ss2703628028 Nov 08, 2017 (151)
48 GNOMAD ss2781752419 Nov 08, 2017 (151)
49 AFFY ss2985188389 Nov 08, 2017 (151)
50 AFFY ss2985810138 Nov 08, 2017 (151)
51 SWEGEN ss2990715244 Nov 08, 2017 (151)
52 BIOINF_KMB_FNS_UNIBA ss3024227096 Nov 08, 2017 (151)
53 TOPMED ss3327817506 Nov 08, 2017 (151)
54 TOPMED ss3327817507 Nov 08, 2017 (151)
55 CSHL ss3344562113 Nov 08, 2017 (151)
56 URBANLAB ss3647185290 Oct 11, 2018 (152)
57 ILLUMINA ss3653955700 Oct 11, 2018 (152)
58 EGCUT_WGS ss3658577214 Jul 13, 2019 (153)
59 EVA_DECODE ss3705241185 Jul 13, 2019 (153)
60 ACPOP ss3729025397 Jul 13, 2019 (153)
61 EVA ss3757606148 Jul 13, 2019 (153)
62 PACBIO ss3784041157 Jul 13, 2019 (153)
63 PACBIO ss3789597148 Jul 13, 2019 (153)
64 PACBIO ss3794470116 Jul 13, 2019 (153)
65 KHV_HUMAN_GENOMES ss3801966756 Jul 13, 2019 (153)
66 EVA ss3827309366 Apr 25, 2020 (154)
67 EVA ss3837070723 Apr 25, 2020 (154)
68 EVA ss3842490176 Apr 25, 2020 (154)
69 SGDP_PRJ ss3853783282 Apr 25, 2020 (154)
70 KRGDB ss3899392010 Apr 25, 2020 (154)
71 1000Genomes NC_000002.11 - 158638441 Oct 11, 2018 (152)
72 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 158638441 Oct 11, 2018 (152)
73 Genetic variation in the Estonian population NC_000002.11 - 158638441 Oct 11, 2018 (152)
74 The Danish reference pan genome NC_000002.11 - 158638441 Apr 25, 2020 (154)
75 gnomAD - Genomes NC_000002.11 - 158638441 Jul 13, 2019 (153)
76 Genome of the Netherlands Release 5 NC_000002.11 - 158638441 Apr 25, 2020 (154)
77 HapMap NC_000002.12 - 157781929 Apr 25, 2020 (154)
78 KOREAN population from KRGDB NC_000002.11 - 158638441 Apr 25, 2020 (154)
79 Northern Sweden NC_000002.11 - 158638441 Jul 13, 2019 (153)
80 Qatari NC_000002.11 - 158638441 Apr 25, 2020 (154)
81 SGDP_PRJ NC_000002.11 - 158638441 Apr 25, 2020 (154)
82 Siberian NC_000002.11 - 158638441 Apr 25, 2020 (154)
83 TopMed NC_000002.12 - 157781929 Oct 11, 2018 (152)
84 UK 10K study - Twins NC_000002.11 - 158638441 Oct 11, 2018 (152)
85 A Vietnamese Genetic Variation Database NC_000002.11 - 158638441 Jul 13, 2019 (153)
86 dbGaP Population Frequency Project NC_000002.12 - 157781929 Apr 25, 2020 (154)
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)
rs57921552 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83958518 NC_000002.9:158463948:A:C NC_000002.12:157781928:A:C (self)
ss91408774, ss110122849, ss111154014, ss117937584, ss164630205, ss165494445, ss167343408, ss201262180, ss205642231, ss253610428, ss276749976, ss284468706, ss292408243, ss1586980929 NC_000002.10:158346686:A:C NC_000002.12:157781928:A:C (self)
11100110, 6119732, 4315462, 5325260, 30330052, 2688900, 6569404, 2310262, 2841771, 5800262, 1511722, 6119732, 1327768, ss219606206, ss231433071, ss238927231, ss555981720, ss649624071, ss977546233, ss1069633351, ss1300056869, ss1428793052, ss1579160321, ss1604948791, ss1647942824, ss1797780908, ss1920799841, ss1968931843, ss2020929627, ss2148995368, ss2402198523, ss2624969595, ss2703628028, ss2781752419, ss2985188389, ss2985810138, ss2990715244, ss3344562113, ss3653955700, ss3658577214, ss3729025397, ss3757606148, ss3784041157, ss3789597148, ss3794470116, ss3827309366, ss3837070723, ss3853783282, ss3899392010 NC_000002.11:158638440:A:C NC_000002.12:157781928:A:C (self)
1930306, 208580752, 636753895, ss2235803463, ss3024227096, ss3327817506, ss3647185290, ss3705241185, ss3801966756, ss3842490176 NC_000002.12:157781928:A:C NC_000002.12:157781928:A:C (self)
ss11445439 NT_005403.13:8797779:A:C NC_000002.12:157781928:A:C (self)
ss16302435, ss21650216 NT_005403.14:8847858:A:C NC_000002.12:157781928:A:C (self)
ss2943023, ss23251837, ss44172854, ss96441007, ss103615554, ss136094111, ss138562012, ss157883941 NT_005403.17:8847858:A:C NC_000002.12:157781928:A:C (self)
6569404, ss3899392010 NC_000002.11:158638440:A:G NC_000002.12:157781928:A:G
6569404, ss3899392010 NC_000002.11:158638440:A:T NC_000002.12:157781928:A:T
ss3327817507 NC_000002.12:157781928:A:T NC_000002.12:157781928: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.

4 citations for rs2033962
PMID Title Author Year Journal
18854405 Variants in the ACVR1 gene are associated with AMH levels in women with polycystic ovary syndrome. Kevenaar ME et al. 2009 Human reproduction (Oxford, England)
20716560 Genetic variation within the hypothalamus-pituitary-ovarian axis in women with recurrent miscarriage. Hanna CW et al. 2010 Human reproduction (Oxford, England)
23180569 Genetic variation in bone morphogenetic proteins and breast cancer risk in hispanic and non-hispanic white women: The breast cancer health disparities study. Slattery ML et al. 2013 International journal of cancer
25379134 Genetic variants in anti-Mullerian hormone and anti-Mullerian hormone receptor genes and breast cancer risk in Caucasians and African Americans. Nan H et al. 2014 International journal of molecular epidemiology and genetics
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.post565+e32b82c