rs743572
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs743572(A;G) |
| Make rs743572(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 102837395 |
| Gene | CYP17A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs743572 |
| dbSNP (classic) | rs743572 |
| ClinGen | rs743572 |
| ebi | rs743572 |
| HLI | rs743572 |
| Exac | rs743572 |
| Gnomad | rs743572 |
| Varsome | rs743572 |
| LitVar | rs743572 |
| Map | rs743572 |
| PheGenI | rs743572 |
| Biobank | rs743572 |
| 1000 genomes | rs743572 |
| hgdp | rs743572 |
| ensembl | rs743572 |
| geneview | rs743572 |
| scholar | rs743572 |
| rs743572 | |
| pharmgkb | rs743572 |
| gwascentral | rs743572 |
| openSNP | rs743572 |
| 23andMe | rs743572 |
| SNPshot | rs743572 |
| SNPdbe | rs743572 |
| MSV3d | rs743572 |
| GWAS Ctlg | rs743572 |
| GMAF | 0.4201 |
| Max Magnitude | 0 |
rs743572, known best as the CYP17 -34 T/C or T>C variant, is a variant in the 5' upstream region of the CYP17A1 gene.
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19415745] Genetic polymorphisms of estrogen metabolizing enzyme and breast cancer risk in Thai women
[PMID 18682255] Arsenic metabolism is influenced by polymorphisms in genes involved in one-carbon metabolism and reduction reactions
[PMID 20432167] Dietary isoflavone intake, polymorphisms in the CYP17, CYP19, 17beta-HSD1, and SHBG genes, and risk of breast cancer in case-control studies in Japanese, Japanese Brazilians, and non-Japanese Brazilians
[PMID 21824047] Genetic polymorphisms associated with steroids metabolism and insulin action in polycystic ovary syndrome
[PMID 22418777
] Estrogen-related genes and their contribution to racial differences in breast cancer risk
[PMID 22658813] Association Between Polymorphisms in COMT, PLCH1, and CYP17A1, and Non-Small-Cell Lung Cancer Risk in Chinese Nonsmokers
[PMID 17307805] CYP17 genotype is associated with short menstrual cycles, early oral contraceptive use and BRCA mutation status in young healthy women.
[PMID 17615053] Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk.
[PMID 17986287] The rs743572 common variant in the promoter of CYP17A1 is not associated with prostate cancer risk or circulating hormonal levels.
[PMID 18006912] CYP17 genetic variation and risk of breast and prostate cancer from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3).
[PMID 18163429] Genetic polymorphisms in CYP17, CYP3A4, CYP19A1, SRD5A2, IGF-1, and IGFBP-3 and prostate cancer risk in African-American men: the Flint Men's Health Study.
[PMID 18172694] Genetic variation in CYP17 and endometrial cancer risk.
[PMID 18437511] Variants in hormone biosynthesis genes and risk of endometrial cancer.
[PMID 18483327] Polymorphisms in steroid hormone biosynthesis genes and risk of breast cancer and fibrocystic breast conditions in Chinese women.
[PMID 18601603] Polymorphisms of CYP17A1, CYP19, and androgen in Brazilian women with uterine leiomyomas.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 18628428] Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.
[PMID 18629629] Association of genetic polymorphisms of ER-alpha and the estradiol-synthesizing enzyme genes CYP17 and CYP19 with breast cancer risk in Chinese women.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 19015200] Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.
[PMID 19127255] Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium.
[PMID 19174490] Tobacco and estrogen metabolic polymorphisms and risk of non-small cell lung cancer in women.
[PMID 19387820] Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome.
[PMID 19679043] African American-preponderant single nucleotide polymorphisms (SNPs) and risk of breast cancer.
[PMID 20171624] Solitary and multiple uterine leiomyomas among Caucasian women: two different disorders?
[PMID 20411041] Common Variation in the CYP17A1 and IFIT1 Genes on Chromosome 10 Does Not Contribute to the Risk of Endometriosis.
[PMID 20798986] The CYP17A1 -34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers.
[PMID 21229561] CYP17 gene polymorphisms and prostate cancer risk: A meta-analysis based on 38 independent studies.
[PMID 21644229] [Association of single nucleotide polymorphism in CYP17 and ERalpha genes with endometriosis risk in southern Chinese women].
[PMID 21656827] CYP17 gene polymorphisms and prostate cancer risk: a meta-analysis based on 38 independent studies.
[PMID 23129512] Polymorphisms in CYP17 and CYP3A4 and prostate cancer in men of African descent
[PMID 24430361] Genetic polymorphisms of ESR1, ESR2, CYP17A1, and CYP19A1 and the risk of breast cancer: a case control study from North India
[PMID 22714708] Genetic polymorphisms of CYP17A1 in steroidogenesis pathway are associated with risk of progression to castration-resistant prostate cancer in Japanese men receiving androgen deprivation therapy.
[PMID 23649771] Genetic variation of the CYP17 and susceptibility to endometrial cancer: a meta-analysis.
[PMID 23809139] Polymorphic variants of CYP17 and CYP19A and risk of infertility in endometriosis.
[PMID 25323563] Quantitative Assessment of the Association Between CYP17 rs743572 Polymorphism and Prostate Cancer Risk
[PMID 26263970] A Single Nucleotide Polymorphism near the CYP17A1 Gene Is Associated with Left Ventricular Mass in Hypertensive Patients under Pharmacotherapy
[PMID 26276290] Relationship between gene polymorphisms and prostate cancer risk
[PMID 26407154] Evaluation of CYP17A1 and LEP Gene Polymorphisms in Breast Cancer
[PMID 26940238] Association between CYP17A1 rs3824755 and rs743572 gene polymorphisms and Alzheimer's disease in the Chinese Han population.
| ClinVar | |
|---|---|
| Risk | rs743572(G;G) rs743572(T;T) |
| Alt | rs743572(G;G) rs743572(T;T) |
| Reference | Rs743572(A;A) |
| Significance | Non-pathogenic |
| Disease | Congenital adrenal hyperplasia |
| Variation | info |
| Gene | CYP17A1 |
| CLNDBN | Congenital adrenal hyperplasia |
| Reversed | 0 |
| HGVS | NC_000010.10:g.104597152A>G |
| CLNSRC | |
| CLNACC | RCV000354477.1, |
