rs700518

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs700518(A;G)

Make rs700518(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

51236915

Gene

CYP19A1

is a	snp
is	mentioned by
dbSNP	rs700518
dbSNP (classic)	rs700518
ClinGen	rs700518
ebi	rs700518
HLI	rs700518
Exac	rs700518
Gnomad	rs700518
Varsome	rs700518
LitVar	rs700518
Map	rs700518
PheGenI	rs700518
Biobank	rs700518
1000 genomes	rs700518
hgdp	rs700518
ensembl	rs700518
geneview	rs700518
scholar	rs700518
google	rs700518
pharmgkb	rs700518
gwascentral	rs700518
openSNP	rs700518
23andMe	rs700518
SNPshot	rs700518
SNPdbe	rs700518
MSV3d	rs700518
GWAS Ctlg	rs700518

GMAF

0.3682

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

rs700518 is a SNP potentially linked in a gender-specific manner to hypertension

[PMID 18274619 ]

OMIM	107910
Desc	CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1
Variant
Related	also

[PMID 19921206 ] Association of polymorphisms in CYP19A1 and CYP3A4 genes with lower urinary tract symptoms, prostate volume, uroflow and PSA in a population-based sample

[PMID 22104650 ] A genetic polymorphism in the CYP19A1 gene and the risk of hypertension among midlife women

[PMID 21442439] Single nucleotide polymorphisms of CYP19A1 predict clinical outcomes and adverse events associated with letrozole in patients with metastatic breast cancer

[PMID 16733710 ] Association analyses of CYP19 gene polymorphisms with height variation in a large sample of Caucasian nuclear families.

[PMID 16782804 ] Polymorphisms of estrogen-biosynthesis genes CYP17 and CYP19 may influence age at menarche: a genetic association study in Caucasian females.

[PMID 17002564 ] Robust and comprehensive analysis of 20 osteoporosis candidate genes by very high-density single-nucleotide polymorphism screen among 405 white nuclear families identified significant association and gene-gene interaction.

[PMID 17118999] Identification of an aromatase haplotype that is associated with gene expression and postmenopausal osteoporosis.

[PMID 17903296 ] Genome-wide association with bone mass and geometry in the Framingham Heart Study.

[PMID 18445666 ] Variation in estrogen-related genes associated with cardiovascular phenotypes and circulating estradiol, testosterone, and dehydroepiandrosterone sulfate levels.

[PMID 19168589 ] Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.

[PMID 19194457 ] Association between arterial stiffness and variations in oestrogen-related genes.

[PMID 22638611] Estrogen synthesis genes CYP19A1, HSD3B1, and HSD3B2 in hypertensive disorders of pregnancy.

[PMID 23643682 ] Genetic Polymorphism at Val(80) (rs700518) of the CYP19A1 Gene is Associated with Aromatase Inhibitor Associated Bone Loss in Women with ER (+) Breast Cancer

[PMID 23700878] Research on aromatase gene (CYP19A1) polymorphisms as a predictor of endocrine therapy effectiveness in breast cancer

[PMID 22887836] Estrogen and the male hippocampus: genetic variation in the aromatase gene predicting serum estrogen is associated with hippocampal gray matter volume in men.

[PMID 23408108 ] Regulation of aromatase expression in breast cancer treated with anastrozole neoadjuvant therapy.

[PMID 24968701 ] CYP19 gene variant confers susceptibility to endometriosis-associated infertility in Chinese women

[PMID 26049585 ] Genetic polymorphism at Val80 (rs700518) of the CYP19A1 gene is associated with body composition changes in women on aromatase inhibitors for ER (+) breast cancer

[PMID 26379441 ] No associations between aromatase gene polymorphisms and breast cancer risk in Saudi patients

[PMID 26463708 ] Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy

ClinVar
Risk	rs700518(G;G)
Alt	rs700518(G;G)
Reference	Rs700518(A;A)
Significance	Non-pathogenic
Disease	Aromatase deficiency
Variation	info
Gene	CYP19A1
CLNDBN	Aromatase deficiency
Reversed	1
HGVS	NC_000015.9:g.51529112T>C
CLNSRC
CLNACC	RCV000350431.1,