rs104894141

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

10

Position

102837311

Gene

CYP17A1

is a	snp
is	mentioned by
dbSNP	rs104894141
dbSNP (classic)	rs104894141
ClinGen	rs104894141
ebi	rs104894141
HLI	rs104894141
Exac	rs104894141
Gnomad	rs104894141
Varsome	rs104894141
LitVar	rs104894141
Map	rs104894141
PheGenI	rs104894141
Biobank	rs104894141
1000 genomes	rs104894141
hgdp	rs104894141
ensembl	rs104894141
geneview	rs104894141
scholar	rs104894141
google	rs104894141
pharmgkb	rs104894141
gwascentral	rs104894141
openSNP	rs104894141
23andMe	rs104894141
SNPshot	rs104894141
SNPdbe	rs104894141
MSV3d	rs104894141
GWAS Ctlg	rs104894141

Max Magnitude

6.6

c.51G>A (p.Trp17Ter)

23andMe name: i5001490

OMIM	609300
Desc
Variant	0016
Related	also

ClinVar
Risk	Rs104894141(A;A)
Alt	Rs104894141(A;A)
Reference	Rs104894141(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.104597068C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001862.4,