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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.

rs6152

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chrX:67545785 (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
A=0.15181 (27505/181185, GnomAD_exome)
A=0.28049 (35221/125568, TOPMED)
A=0.1747 (14054/80443, ExAC) (+ 5 more)
A=0.2660 (5778/21720, GnomAD)
A=0.3189 (3369/10563, GO-ESP)
A=0.239 (901/3775, 1000G)
A=0.160 (594/3708, TWINSUK)
A=0.133 (383/2889, ALSPAC)
Clinical Significance
Reported in ClinVar
Gene : Consequence
AR : Synonymous Variant
Publications
25 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 X NC_000023.11:g.67545785G>A
GRCh37.p13 chr X NC_000023.10:g.66765627G>A
AR RefSeqGene NG_009014.2:g.6754G>A
Gene: AR, androgen receptor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AR transcript variant 2 NM_001011645.3:c. N/A 5 Prime UTR Variant
AR transcript variant 3 NM_001348061.1:c.639G>A E [GAG] > E [GAA] Coding Sequence Variant
androgen receptor isoform 3 NP_001334990.1:p.Glu213= E (Glu) > E (Glu) Synonymous Variant
AR transcript variant 4 NM_001348063.1:c.639G>A E [GAG] > E [GAA] Coding Sequence Variant
androgen receptor isoform 4 NP_001334992.1:p.Glu213= E (Glu) > E (Glu) Synonymous Variant
AR transcript variant 5 NM_001348064.1:c.639G>A E [GAG] > E [GAA] Coding Sequence Variant
androgen receptor isoform 5 NP_001334993.1:p.Glu213= E (Glu) > E (Glu) Synonymous Variant
AR transcript variant 1 NM_000044.6:c.639G>A E [GAG] > E [GAA] Coding Sequence Variant
androgen receptor isoform 1 NP_000035.2:p.Glu213= E (Glu) > E (Glu) Synonymous 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.

Allele: A (allele ID: 165512 )
ClinVar Accession Disease Names Clinical Significance
RCV000143829.2 Androgen resistance syndrome Benign
RCV000244696.1 not specified Benign
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
gnomAD - Exomes Global Study-wide 181185 G=0.84819 A=0.15181
gnomAD - Exomes European Sub 96378 G=0.8526 A=0.1474
gnomAD - Exomes Asian Sub 32707 G=0.9485 A=0.0515
gnomAD - Exomes American Sub 27308 G=0.9235 A=0.0765
gnomAD - Exomes African Sub 12855 G=0.3781 A=0.6219
gnomAD - Exomes Ashkenazi Jewish Sub 7463 G=0.879 A=0.121
gnomAD - Exomes Other Sub 4474 G=0.860 A=0.140
TopMed Global Study-wide 125568 G=0.71951 A=0.28049
ExAC Global Study-wide 80443 G=0.8253 A=0.1747
ExAC Europe Sub 47757 G=0.8466 A=0.1534
ExAC Asian Sub 15230 G=0.9408 A=0.0592
ExAC American Sub 8778 G=0.927 A=0.073
ExAC African Sub 8115 G=0.370 A=0.630
ExAC Other Sub 563 G=0.86 A=0.14
gnomAD - Genomes Global Study-wide 21720 G=0.7340 A=0.2660
gnomAD - Genomes European Sub 13312 G=0.8507 A=0.1493
gnomAD - Genomes African Sub 5811 G=0.383 A=0.617
gnomAD - Genomes East Asian Sub 994 G=1.00 A=0.00
gnomAD - Genomes Other Sub 805 G=0.84 A=0.16
gnomAD - Genomes American Sub 619 G=0.91 A=0.09
gnomAD - Genomes Ashkenazi Jewish Sub 179 G=0.89 A=0.11
GO Exome Sequencing Project Global Study-wide 10563 G=0.6811 A=0.3189
GO Exome Sequencing Project European American Sub 6728 G=0.843 A=0.157
GO Exome Sequencing Project African American Sub 3835 G=0.397 A=0.603
1000Genomes Global Study-wide 3775 G=0.761 A=0.239
1000Genomes African Sub 1003 G=0.350 A=0.650
1000Genomes Europe Sub 766 G=0.86 A=0.14
1000Genomes East Asian Sub 764 G=1.00 A=0.00
1000Genomes South Asian Sub 718 G=0.91 A=0.09
1000Genomes American Sub 524 G=0.86 A=0.14
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.840 A=0.160
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 2889 G=0.867 A=0.133
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 X NC_000023.11:g.67545785= NC_000023.11:g.67545785G>A
GRCh37.p13 chr X NC_000023.10:g.66765627= NC_000023.10:g.66765627G>A
AR RefSeqGene NG_009014.2:g.6754= NG_009014.2:g.6754G>A
AR transcript variant 1 NM_000044.6:c.639= NM_000044.6:c.639G>A
AR transcript variant 1 NM_000044.5:c.639= NM_000044.5:c.639G>A
AR transcript variant 1 NM_000044.4:c.639= NM_000044.4:c.639G>A
AR transcript variant 1 NM_000044.3:c.639= NM_000044.3:c.639G>A
AR transcript variant 2 NM_001011645.3:c.-1145= NM_001011645.3:c.-1145G>A
AR transcript variant 3 NM_001348061.1:c.639= NM_001348061.1:c.639G>A
AR transcript variant 5 NM_001348064.1:c.639= NM_001348064.1:c.639G>A
AR transcript variant 4 NM_001348063.1:c.639= NM_001348063.1:c.639G>A
androgen receptor isoform 1 NP_000035.2:p.Glu213= NP_000035.2:p.Glu213=
androgen receptor isoform 3 NP_001334990.1:p.Glu213= NP_001334990.1:p.Glu213=
androgen receptor isoform 5 NP_001334993.1:p.Glu213= NP_001334993.1:p.Glu213=
androgen receptor isoform 4 NP_001334992.1:p.Glu213= NP_001334992.1:p.Glu213=
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#.

42 SubSNP, 8 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WIAF-CSNP ss7773 Sep 19, 2000 (52)
2 SNP500CANCER ss5586251 Jul 02, 2003 (116)
3 SC_SNP ss8825955 Jul 11, 2003 (116)
4 SI_EXO ss61707931 Oct 16, 2006 (127)
5 CORNELL ss86237579 Mar 23, 2008 (129)
6 CANCER-GENOME ss86347936 Mar 23, 2008 (129)
7 ILLUMINA-UK ss115619204 Feb 05, 2009 (130)
8 SEATTLESEQ ss159745438 Dec 01, 2009 (131)
9 COMPLETE_GENOMICS ss163134549 Jul 04, 2010 (132)
10 COMPLETE_GENOMICS ss165003994 Jul 04, 2010 (132)
11 BUSHMAN ss204259334 Jul 04, 2010 (132)
12 1000GENOMES ss212170310 Jul 14, 2010 (132)
13 ILLUMINA ss244304559 Jul 04, 2010 (132)
14 1000GENOMES ss341529245 May 09, 2011 (134)
15 NHLBI-ESP ss342554785 May 09, 2011 (134)
16 ILLUMINA ss482666920 May 04, 2012 (137)
17 ILLUMINA ss484389200 May 04, 2012 (137)
18 1000GENOMES ss491201375 May 04, 2012 (137)
19 CLINSEQ_SNP ss491951467 May 04, 2012 (137)
20 TISHKOFF ss566889795 Apr 25, 2013 (138)
21 SSMP ss662837153 Apr 25, 2013 (138)
22 ILLUMINA ss781837391 Sep 08, 2015 (146)
23 JMKIDD_LAB ss1067610249 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1082945679 Aug 21, 2014 (142)
25 1000GENOMES ss1554728773 Apr 01, 2015 (144)
26 EVA_GENOME_DK ss1583405587 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1640898684 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1683892717 Apr 01, 2015 (144)
29 EVA_EXAC ss1694540150 Apr 01, 2015 (144)
30 EVA_MGP ss1711583513 Apr 01, 2015 (144)
31 WEILL_CORNELL_DGM ss1939399767 Feb 12, 2016 (147)
32 USC_VALOUEV ss2159082982 Dec 20, 2016 (150)
33 HUMAN_LONGEVITY ss2317822542 Dec 20, 2016 (150)
34 ILLUMINA ss2711183635 Nov 08, 2017 (151)
35 GNOMAD ss2745435669 Nov 08, 2017 (151)
36 GNOMAD ss2746112987 Nov 08, 2017 (151)
37 GNOMAD ss2979675100 Nov 08, 2017 (151)
38 SWEGEN ss3020089627 Nov 08, 2017 (151)
39 BIOINF_KMB_FNS_UNIBA ss3029054973 Nov 08, 2017 (151)
40 TOPMED ss3613064205 Nov 08, 2017 (151)
41 OMUKHERJEE_ADBS ss3646573381 Oct 12, 2018 (152)
42 KHV_HUMAN_GENOMES ss3823044794 Jul 13, 2019 (153)
43 1000Genomes NC_000023.10 - 66765627 Oct 12, 2018 (152)
44 The Avon Longitudinal Study of Parents and Children NC_000023.10 - 66765627 Oct 12, 2018 (152)
45 ExAC NC_000023.10 - 66765627 Oct 12, 2018 (152)
46 gnomAD - Genomes NC_000023.10 - 66765627 Jul 13, 2019 (153)
47 gnomAD - Exomes NC_000023.10 - 66765627 Jul 13, 2019 (153)
48 GO Exome Sequencing Project NC_000023.10 - 66765627 Oct 12, 2018 (152)
49 TopMed NC_000023.11 - 67545785 Oct 12, 2018 (152)
50 UK 10K study - Twins NC_000023.10 - 66765627 Oct 12, 2018 (152)
51 ClinVar RCV000143829.2 Oct 12, 2018 (152)
52 ClinVar RCV000244696.1 Oct 12, 2018 (152)
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)
rs1800052 Jan 04, 2002 (102)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss115619204, ss163134549, ss165003994, ss204259334, ss212170310, ss484389200, ss491951467 NC_000023.9:66682351:G:A NC_000023.11:67545784:G:A (self)
82700840, 45639427, 10043312, 225178546, 14768031, 1946917, 45639427, ss341529245, ss342554785, ss482666920, ss491201375, ss566889795, ss662837153, ss781837391, ss1067610249, ss1082945679, ss1554728773, ss1583405587, ss1640898684, ss1683892717, ss1694540150, ss1711583513, ss1939399767, ss2159082982, ss2711183635, ss2745435669, ss2746112987, ss2979675100, ss3020089627, ss3646573381 NC_000023.10:66765626:G:A NC_000023.11:67545784:G:A (self)
RCV000143829.2, RCV000244696.1, 430032141, ss2317822542, ss3029054973, ss3613064205, ss3823044794 NC_000023.11:67545784:G:A NC_000023.11:67545784:G:A (self)
ss61707931 NT_011669.15:5083614:G:A NC_000023.11:67545784:G:A (self)
ss7773, ss5586251, ss8825955, ss86237579, ss86347936, ss159745438, ss244304559 NT_011669.17:5083614:G:A NC_000023.11:67545784: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.

25 citations for rs6152
PMID Title Author Year Journal
1307250 Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Batch JA et al. 1992 Human molecular genetics
3174628 Structural analysis of complementary DNA and amino acid sequences of human and rat androgen receptors. Chang CS et al. 1988 Proceedings of the National Academy of Sciences of the United States of America
8033918 Molecular characterization of the androgen receptor gene in boys with hypospadias. Hiort O et al. 1994 European journal of pediatrics
15570555 Systematic evaluation of genetic variation at the androgen receptor locus and risk of prostate cancer in a multiethnic cohort study. Freedman ML et al. 2005 American journal of human genetics
15902657 Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. Hillmer AM et al. 2005 American journal of human genetics
15994977 Androgen receptor cytosine, adenine, guanine repeats, and haplotypes in relation to ovarian cancer risk. Terry KL et al. 2005 Cancer research
16987421 A comprehensive analysis of the androgen receptor gene and risk of breast cancer: results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). Cox DG et al. 2006 Breast cancer research
17256155 Baldness and the androgen receptor: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia. Ellis JA et al. 2007 Human genetics
18385763 EDA2R is associated with androgenetic alopecia. Prodi DA et al. 2008 The Journal of investigative dermatology
19167832 Possible association between the androgen receptor gene and autism spectrum disorder. Henningsson S et al. 2009 Psychoneuroendocrinology
19190146 Genetic variation in the androgen receptor gene and endometrial cancer risk. Yang HP et al. 2009 Cancer epidemiology, biomarkers & prevention
19555469 A prospective study of androgen levels, hormone-related genes and risk of rheumatoid arthritis. Karlson EW et al. 2009 Arthritis research & therapy
20450840 Association of AR rs6152G/A gene polymorphism with susceptibility to polycystic ovary syndrome in Chinese women. Peng CY et al. 2010 Reproduction, fertility, and development
20534771 A large study of androgen receptor germline variants and their relation to sex hormone levels and prostate cancer risk. Results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. Lindström S et al. 2010 The Journal of clinical endocrinology and metabolism
21645389 Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family. Petroli RJ et al. 2011 BMC research notes
21981665 Androgen receptor gene polymorphisms and risk for androgenetic alopecia: a meta-analysis. Zhuo FL et al. 2012 Clinical and experimental dermatology
22033271 Androgen receptor genotypes predict response to endocrine treatment in breast cancer patients. Lundin KB et al. 2011 British journal of cancer
23227263 A potential novel spontaneous preterm birth gene, AR, identified by linkage and association analysis of X chromosomal markers. Karjalainen MK et al. 2012 PloS one
24665929 Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152) in patients with benign prostate hyperplasia or prostate cancer. Kucerova R et al. 2015 Journal of the European Academy of Dermatology and Venereology
25241384 Mutation analysis of androgen receptor gene: multiple uses for a single test. Shojaei A et al. 2014 Gene
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
28707146 Association between G1733A (rs6152) polymorphism in androgen receptor gene and recurrent spontaneous abortions in Mexican population. Porras-Dorantes Á et al. 2017 Journal of assisted reproduction and genetics
28981526 Association between polymorphisms in sex hormones synthesis and metabolism and prostate cancer aggressiveness. Robles-Fernandez I et al. 2017 PloS one
29047007 Author Correction: Association between G1733A (rs6152) polymorphism in androgen receptor gene and recurrent spontaneous abortions in Mexican population. Porras-Dorantes A et al. 2018 Journal of assisted reproduction and genetics
30900623 Association between androgen receptor gene polymorphisms and testicular germ cell tumor: A systematic review and meta-analysis. Qin J et al. 2019 Journal of cancer research and therapeutics

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