rs104894152

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

10

Position

102837281

Gene

CYP17A1

is a	snp
is	mentioned by
dbSNP	rs104894152
dbSNP (classic)	rs104894152
ClinGen	rs104894152
ebi	rs104894152
HLI	rs104894152
Exac	rs104894152
Gnomad	rs104894152
Varsome	rs104894152
LitVar	rs104894152
Map	rs104894152
PheGenI	rs104894152
Biobank	rs104894152
1000 genomes	rs104894152
hgdp	rs104894152
ensembl	rs104894152
geneview	rs104894152
scholar	rs104894152
google	rs104894152
pharmgkb	rs104894152
gwascentral	rs104894152
openSNP	rs104894152
23andMe	rs104894152
SNPshot	rs104894152
SNPdbe	rs104894152
MSV3d	rs104894152
GWAS Ctlg	rs104894152

Max Magnitude

6.6

OMIM	609300
Desc
Variant	0028
Related	also

ClinVar
Risk	Rs104894152(A;A)
Alt	Rs104894152(A;A)
Reference	Rs104894152(C;C)
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.104597038G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001874.3,