rs786205062

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	6.3	Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency
(-;GCACCAAGACTACAGTGATTGTCGG)	3	Carrier of a partial 17-alpha-hydroxylase/17,20-lyase deficiency mutation
(GCACCAAGACTACAGTGATTGTCGG;GCACCAAGACTACAGTGATTGTCGG)	0	common in clinvar

Reference

GRCh38.p2 38.2/146

Chromosome

10

Position

102837132

Gene

CYP17A1

is a	snp
is	mentioned by
dbSNP	rs786205062
dbSNP (classic)	rs786205062
ClinGen	rs786205062
ebi	rs786205062
HLI	rs786205062
Exac	rs786205062
Gnomad	rs786205062
Varsome	rs786205062
LitVar	rs786205062
Map	rs786205062
PheGenI	rs786205062
Biobank	rs786205062
1000 genomes	rs786205062
hgdp	rs786205062
ensembl	rs786205062
geneview	rs786205062
scholar	rs786205062
google	rs786205062
pharmgkb	rs786205062
gwascentral	rs786205062
openSNP	rs786205062
23andMe	rs786205062
SNPshot	rs786205062
SNPdbe	rs786205062
MSV3d	rs786205062
GWAS Ctlg	rs786205062

Max Magnitude

6.3

ClinVar
Risk	Rs786205062(-;-)
Alt	Rs786205062(-;-)
Reference	Rs786205062(GCACCAAGACTACAGTGATTGTCGG;GCACCAAGACTACAGTGATTGTCGG)
Significance	Pathogenic
Disease	Combined partial 17-alpha-hydroxylase/17
Variation	info
Gene	CYP17A1
CLNDBN	Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency
Reversed	1
HGVS	NC_000010.10:g.104596889_104596913del25
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001868.6,