rs786205061

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Carrier of a complete combined 17-alpha-hydroxylase/17,20-lyase deficiency mutation
(T;T)	6.6	Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency

Reference

GRCh38.p2 38.2/146

Chromosome

10

Position

102835249

Gene

CYP17A1

is a	snp
is	mentioned by
dbSNP	rs786205061
dbSNP (classic)	rs786205061
ClinGen	rs786205061
ebi	rs786205061
HLI	rs786205061
Exac	rs786205061
Gnomad	rs786205061
Varsome	rs786205061
LitVar	rs786205061
Map	rs786205061
PheGenI	rs786205061
Biobank	rs786205061
1000 genomes	rs786205061
hgdp	rs786205061
ensembl	rs786205061
geneview	rs786205061
scholar	rs786205061
google	rs786205061
pharmgkb	rs786205061
gwascentral	rs786205061
openSNP	rs786205061
23andMe	rs786205061
SNPshot	rs786205061
SNPdbe	rs786205061
MSV3d	rs786205061
GWAS Ctlg	rs786205061

Max Magnitude

6.6

ClinVar
Risk	Rs786205061(T;T)
Alt	Rs786205061(T;T)
Reference	Rs786205061(G;G)
Significance	Pathogenic
Disease	Complete combined 17-alpha-hydroxylase/17
Variation	info
Gene	CYP17A1
CLNDBN	Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency
Reversed	1
HGVS	NC_000010.10:g.104595006C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001863.3,