rs104894146

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

10

Position

102837084

Gene

CYP17A1

is a	snp
is	mentioned by
dbSNP	rs104894146
dbSNP (classic)	rs104894146
ClinGen	rs104894146
ebi	rs104894146
HLI	rs104894146
Exac	rs104894146
Gnomad	rs104894146
Varsome	rs104894146
LitVar	rs104894146
Map	rs104894146
PheGenI	rs104894146
Biobank	rs104894146
1000 genomes	rs104894146
hgdp	rs104894146
ensembl	rs104894146
geneview	rs104894146
scholar	rs104894146
google	rs104894146
pharmgkb	rs104894146
gwascentral	rs104894146
openSNP	rs104894146
23andMe	rs104894146
SNPshot	rs104894146
SNPdbe	rs104894146
MSV3d	rs104894146
GWAS Ctlg	rs104894146

Max Magnitude

6.6

c.278T>G (p.Phe93Cys)

23andMe name: i5001488

OMIM	609300
Desc
Variant	0018
Related	also

ClinVar
Risk	Rs104894146(G;G)
Alt	Rs104894146(G;G)
Reference	Rs104894146(T;T)
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.104596841A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001864.3,