rs104894148

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;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

102835343

Gene

CYP17A1

is a	snp
is	mentioned by
dbSNP	rs104894148
dbSNP (classic)	rs104894148
ClinGen	rs104894148
ebi	rs104894148
HLI	rs104894148
Exac	rs104894148
Gnomad	rs104894148
Varsome	rs104894148
LitVar	rs104894148
Map	rs104894148
PheGenI	rs104894148
Biobank	rs104894148
1000 genomes	rs104894148
hgdp	rs104894148
ensembl	rs104894148
geneview	rs104894148
scholar	rs104894148
google	rs104894148
pharmgkb	rs104894148
gwascentral	rs104894148
openSNP	rs104894148
23andMe	rs104894148
SNPshot	rs104894148
SNPdbe	rs104894148
MSV3d	rs104894148
GWAS Ctlg	rs104894148

Max Magnitude

6.3

c.347A>T (p.Asp116Val)

23andMe name: i5001486

OMIM	609300
Desc
Variant	0020
Related	also

ClinVar
Risk	Rs104894148(T;T)
Alt	Rs104894148(T;T)
Reference	Rs104894148(A;A)
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.104595100T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001866.5,