rs104894149

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

10

Position

102832611

Gene	CYP17A1, CYP17A1-AS1

is a	snp
is	mentioned by
dbSNP	rs104894149
dbSNP (classic)	rs104894149
ClinGen	rs104894149
ebi	rs104894149
HLI	rs104894149
Exac	rs104894149
Gnomad	rs104894149
Varsome	rs104894149
LitVar	rs104894149
Map	rs104894149
PheGenI	rs104894149
Biobank	rs104894149
1000 genomes	rs104894149
hgdp	rs104894149
ensembl	rs104894149
geneview	rs104894149
scholar	rs104894149
google	rs104894149
pharmgkb	rs104894149
gwascentral	rs104894149
openSNP	rs104894149
23andMe	rs104894149
SNPshot	rs104894149
SNPdbe	rs104894149
MSV3d	rs104894149
GWAS Ctlg	rs104894149

Max Magnitude

6.3

c.1039C>T (p.Arg347Cys)

23andMe name: i5001485

OMIM	609300
Desc
Variant	0021
Related	also

ClinVar
Risk	Rs104894149(T;T)
Alt	Rs104894149(T;T)
Reference	Rs104894149(C;C)
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.104592368G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001867.4,