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dbSNP Short Genetic Variations

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.

rs8112524

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr19:2250529 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.46557 (67224/144390, GnomAD_exome)
G=0.48876 (61373/125568, TOPMED)
G=0.4933 (15410/31240, GnomAD) (+ 8 more)
G=0.4597 (7841/17056, ExAC)
G=0.4524 (5288/11690, GO-ESP)
A=0.453 (2270/5008, 1000G)
G=0.451 (2022/4480, Estonian)
G=0.381 (1470/3854, ALSPAC)
G=0.361 (1340/3708, TWINSUK)
G=0.42 (251/600, NorthernSweden)
A=0.40 (85/214, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AMH : Intron Variant
MIR4321 : 2KB Upstream Variant
Publications
2 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 19 NC_000019.10:g.2250529G>A
GRCh37.p13 chr 19 NC_000019.9:g.2250528G>A
JSRP1 RefSeqGene NG_032853.1:g.10895C>T
AMH RefSeqGene NG_012190.1:g.6416G>A
Gene: AMH, anti-Mullerian hormone (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AMH transcript NM_000479.5:c. N/A Intron Variant
Gene: MIR4321, microRNA 4321 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR4321 transcript NR_036207.1:n. N/A 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

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").

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Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 144390 G=0.46557 A=0.53443
gnomAD - Exomes European Sub 66162 G=0.4069 A=0.5931
gnomAD - Exomes Asian Sub 33758 G=0.5254 A=0.4746
gnomAD - Exomes American Sub 24626 G=0.5197 A=0.4803
gnomAD - Exomes Ashkenazi Jewish Sub 8306 G=0.377 A=0.623
gnomAD - Exomes African Sub 7316 G=0.666 A=0.334
gnomAD - Exomes Other Sub 4222 G=0.417 A=0.583
TopMed Global Study-wide 125568 G=0.48876 A=0.51124
gnomAD - Genomes Global Study-wide 31240 G=0.4933 A=0.5067
gnomAD - Genomes European Sub 18794 G=0.4128 A=0.5872
gnomAD - Genomes African Sub 8676 G=0.653 A=0.347
gnomAD - Genomes East Asian Sub 1554 G=0.591 A=0.409
gnomAD - Genomes Other Sub 1080 G=0.456 A=0.544
gnomAD - Genomes American Sub 846 G=0.54 A=0.46
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.40 A=0.60
ExAC Global Study-wide 17056 G=0.4597 A=0.5403
ExAC Asian Sub 8452 G=0.489 A=0.511
ExAC Europe Sub 6574 G=0.379 A=0.621
ExAC African Sub 1476 G=0.650 A=0.350
ExAC American Sub 374 G=0.49 A=0.51
ExAC Other Sub 180 G=0.38 A=0.62
GO Exome Sequencing Project Global Study-wide 11690 G=0.4524 A=0.5476
GO Exome Sequencing Project European American Sub 7750 G=0.374 A=0.626
GO Exome Sequencing Project African American Sub 3940 G=0.607 A=0.393
1000Genomes Global Study-wide 5008 G=0.547 A=0.453
1000Genomes African Sub 1322 G=0.694 A=0.306
1000Genomes East Asian Sub 1008 G=0.597 A=0.403
1000Genomes Europe Sub 1006 G=0.405 A=0.595
1000Genomes South Asian Sub 978 G=0.47 A=0.53
1000Genomes American Sub 694 G=0.50 A=0.50
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.451 A=0.549
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.381 A=0.619
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.361 A=0.639
Northern Sweden ACPOP Study-wide 600 G=0.42 A=0.58
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.60 A=0.40
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 G= A Note
GRCh38.p12 chr 19 NC_000019.10:g.2250529= NC_000019.10:g.2250529G>A
GRCh37.p13 chr 19 NC_000019.9:g.2250528= NC_000019.9:g.2250528G>A
JSRP1 RefSeqGene NG_032853.1:g.10895= NG_032853.1:g.10895C>T
AMH RefSeqGene NG_012190.1:g.6416= NG_012190.1:g.6416G>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#.

85 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12472038 Jul 11, 2003 (116)
2 SSAHASNP ss21508402 Apr 05, 2004 (121)
3 ABI ss44189065 Mar 15, 2006 (126)
4 ILLUMINA ss75051336 Dec 06, 2007 (129)
5 HGSV ss78318595 Dec 06, 2007 (129)
6 BCMHGSC_JDW ss90881574 Mar 24, 2008 (129)
7 HUMANGENOME_JCVI ss96249103 Feb 06, 2009 (130)
8 1000GENOMES ss110984523 Jan 25, 2009 (130)
9 1000GENOMES ss114742711 Jan 25, 2009 (130)
10 KRIBB_YJKIM ss119585185 Dec 01, 2009 (131)
11 ENSEMBL ss136302040 Dec 01, 2009 (131)
12 ENSEMBL ss137515888 Dec 01, 2009 (131)
13 GMI ss155528315 Dec 01, 2009 (131)
14 ILLUMINA ss160951224 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss167661243 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss168870211 Jul 04, 2010 (132)
17 ILLUMINA ss174723873 Jul 04, 2010 (132)
18 BUSHMAN ss203590770 Jul 04, 2010 (132)
19 BCM-HGSC-SUB ss208475439 Jul 04, 2010 (132)
20 1000GENOMES ss228009678 Jul 14, 2010 (132)
21 1000GENOMES ss237579003 Jul 15, 2010 (132)
22 1000GENOMES ss243806174 Jul 15, 2010 (132)
23 BL ss255434442 May 09, 2011 (134)
24 GMI ss283098479 May 04, 2012 (137)
25 GMI ss287333875 Apr 25, 2013 (138)
26 PJP ss292173826 May 09, 2011 (134)
27 ILLUMINA ss481788638 May 04, 2012 (137)
28 ILLUMINA ss481820920 May 04, 2012 (137)
29 ILLUMINA ss482782313 Sep 08, 2015 (146)
30 ILLUMINA ss485688977 May 04, 2012 (137)
31 1000GENOMES ss491144350 May 04, 2012 (137)
32 TISHKOFF ss565810171 Apr 25, 2013 (138)
33 SSMP ss661662657 Apr 25, 2013 (138)
34 NHLBI-ESP ss713459398 Apr 25, 2013 (138)
35 ILLUMINA ss783290073 Sep 08, 2015 (146)
36 ILLUMINA ss832551311 Sep 08, 2015 (146)
37 EVA-GONL ss994015794 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1081713207 Aug 21, 2014 (142)
39 1000GENOMES ss1362080369 Aug 21, 2014 (142)
40 DDI ss1428312475 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1578526801 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1637438015 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1680432048 Apr 01, 2015 (144)
44 EVA_EXAC ss1693245256 Apr 01, 2015 (144)
45 EVA_DECODE ss1698078773 Apr 01, 2015 (144)
46 EVA_MGP ss1711492116 Apr 01, 2015 (144)
47 EVA_SVP ss1713646903 Apr 01, 2015 (144)
48 ILLUMINA ss1752278771 Sep 08, 2015 (146)
49 HAMMER_LAB ss1809174381 Sep 08, 2015 (146)
50 WEILL_CORNELL_DGM ss1937492929 Feb 12, 2016 (147)
51 GENOMED ss1968593142 Jul 19, 2016 (147)
52 JJLAB ss2029521532 Sep 14, 2016 (149)
53 USC_VALOUEV ss2158034373 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2223740890 Dec 20, 2016 (150)
55 TOPMED ss2389162414 Dec 20, 2016 (150)
56 SYSTEMSBIOZJU ss2629259386 Nov 08, 2017 (151)
57 ILLUMINA ss2633509380 Nov 08, 2017 (151)
58 GRF ss2702637916 Nov 08, 2017 (151)
59 GNOMAD ss2743443235 Nov 08, 2017 (151)
60 GNOMAD ss2750008563 Nov 08, 2017 (151)
61 GNOMAD ss2959654426 Nov 08, 2017 (151)
62 SWEGEN ss3016968569 Nov 08, 2017 (151)
63 BIOINF_KMB_FNS_UNIBA ss3028593160 Nov 08, 2017 (151)
64 TOPMED ss3286066210 Nov 08, 2017 (151)
65 CSHL ss3352161994 Nov 08, 2017 (151)
66 ILLUMINA ss3633881891 Oct 12, 2018 (152)
67 ILLUMINA ss3634718740 Oct 12, 2018 (152)
68 ILLUMINA ss3635568953 Oct 12, 2018 (152)
69 ILLUMINA ss3636409324 Oct 12, 2018 (152)
70 ILLUMINA ss3637320621 Oct 12, 2018 (152)
71 ILLUMINA ss3638211464 Oct 12, 2018 (152)
72 ILLUMINA ss3640426048 Oct 12, 2018 (152)
73 ILLUMINA ss3643186080 Oct 12, 2018 (152)
74 OMUKHERJEE_ADBS ss3646526653 Oct 12, 2018 (152)
75 URBANLAB ss3650852875 Oct 12, 2018 (152)
76 EGCUT_WGS ss3683817453 Jul 13, 2019 (153)
77 EVA_DECODE ss3702194779 Jul 13, 2019 (153)
78 ACPOP ss3742790567 Jul 13, 2019 (153)
79 ILLUMINA ss3745018812 Jul 13, 2019 (153)
80 EVA ss3755727653 Jul 13, 2019 (153)
81 ILLUMINA ss3772516229 Jul 13, 2019 (153)
82 PACBIO ss3788447305 Jul 13, 2019 (153)
83 PACBIO ss3793370557 Jul 13, 2019 (153)
84 PACBIO ss3798257104 Jul 13, 2019 (153)
85 KHV_HUMAN_GENOMES ss3820981100 Jul 13, 2019 (153)
86 1000Genomes NC_000019.9 - 2250528 Oct 12, 2018 (152)
87 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 2250528 Oct 12, 2018 (152)
88 Genetic variation in the Estonian population NC_000019.9 - 2250528 Oct 12, 2018 (152)
89 ExAC NC_000019.9 - 2250528 Oct 12, 2018 (152)
90 gnomAD - Genomes NC_000019.9 - 2250528 Jul 13, 2019 (153)
91 gnomAD - Exomes NC_000019.9 - 2250528 Jul 13, 2019 (153)
92 GO Exome Sequencing Project NC_000019.9 - 2250528 Oct 12, 2018 (152)
93 Northern Sweden NC_000019.9 - 2250528 Jul 13, 2019 (153)
94 TopMed NC_000019.10 - 2250529 Oct 12, 2018 (152)
95 UK 10K study - Twins NC_000019.9 - 2250528 Oct 12, 2018 (152)
96 A Vietnamese Genetic Variation Database NC_000019.9 - 2250528 Jul 13, 2019 (153)
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
ss78318595, ss90881574, ss110984523, ss114742711, ss167661243, ss168870211, ss203590770, ss208475439, ss255434442, ss283098479, ss287333875, ss292173826, ss481788638, ss1698078773, ss1713646903, ss3643186080 NC_000019.8:2201527:G:A NC_000019.10:2250528:G:A (self)
75447159, 41817637, 29555701, 3723928, 205916511, 12755466, 1669794, 16075432, 41817637, 9247683, ss228009678, ss237579003, ss243806174, ss481820920, ss482782313, ss485688977, ss491144350, ss565810171, ss661662657, ss713459398, ss783290073, ss832551311, ss994015794, ss1081713207, ss1362080369, ss1428312475, ss1578526801, ss1637438015, ss1680432048, ss1693245256, ss1711492116, ss1752278771, ss1809174381, ss1937492929, ss1968593142, ss2029521532, ss2158034373, ss2389162414, ss2629259386, ss2633509380, ss2702637916, ss2743443235, ss2750008563, ss2959654426, ss3016968569, ss3352161994, ss3633881891, ss3634718740, ss3635568953, ss3636409324, ss3637320621, ss3638211464, ss3640426048, ss3646526653, ss3683817453, ss3742790567, ss3745018812, ss3755727653, ss3772516229, ss3788447305, ss3793370557, ss3798257104 NC_000019.9:2250527:G:A NC_000019.10:2250528:G:A (self)
175497273, ss2223740890, ss3028593160, ss3286066210, ss3650852875, ss3702194779, ss3820981100 NC_000019.10:2250528:G:A NC_000019.10:2250528:G:A (self)
ss12472038 NT_011255.13:2190527:G:A NC_000019.10:2250528:G:A (self)
ss21508402, ss44189065, ss75051336, ss96249103, ss119585185, ss136302040, ss137515888, ss155528315, ss160951224, ss174723873 NT_011255.14:2190527:G:A NC_000019.10:2250528:G:A (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 rs8112524
PMID Title Author Year Journal
23371438 Haplotype analysis of single nucleotide polymorphisms in anti-Müllerian hormone gene in Chinese PCOS women. Xu P et al. 2013 Archives of gynecology and obstetrics
26604150 Genome-wide association study identifies common and low-frequency variants at the AMH gene locus that strongly predict serum AMH levels in males. Perry JR et al. 2016 Human molecular genetics

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.post246+3cda961