rs104894151

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

10

Position

102830871

Gene	CYP17A1, CYP17A1-AS1

is a	snp
is	mentioned by
dbSNP	rs104894151
dbSNP (classic)	rs104894151
ClinGen	rs104894151
ebi	rs104894151
HLI	rs104894151
Exac	rs104894151
Gnomad	rs104894151
Varsome	rs104894151
LitVar	rs104894151
Map	rs104894151
PheGenI	rs104894151
Biobank	rs104894151
1000 genomes	rs104894151
hgdp	rs104894151
ensembl	rs104894151
geneview	rs104894151
scholar	rs104894151
google	rs104894151
pharmgkb	rs104894151
gwascentral	rs104894151
openSNP	rs104894151
23andMe	rs104894151
SNPshot	rs104894151
SNPdbe	rs104894151
MSV3d	rs104894151
GWAS Ctlg	rs104894151

Max Magnitude

6.3

OMIM	609300
Desc
Variant	0033
Related	also

ClinVar
Risk	Rs104894151(C;C)
Alt	Rs104894151(C;C)
Reference	Rs104894151(T;T)
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.104590628A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001879.2,