rs104894150

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	6.3	Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency
(A;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

102834850

Gene	CYP17A1, CYP17A1-AS1

is a	snp
is	mentioned by
dbSNP	rs104894150
dbSNP (classic)	rs104894150
ClinGen	rs104894150
ebi	rs104894150
HLI	rs104894150
Exac	rs104894150
Gnomad	rs104894150
Varsome	rs104894150
LitVar	rs104894150
Map	rs104894150
PheGenI	rs104894150
Biobank	rs104894150
1000 genomes	rs104894150
hgdp	rs104894150
ensembl	rs104894150
geneview	rs104894150
scholar	rs104894150
google	rs104894150
pharmgkb	rs104894150
gwascentral	rs104894150
openSNP	rs104894150
23andMe	rs104894150
SNPshot	rs104894150
SNPdbe	rs104894150
MSV3d	rs104894150
GWAS Ctlg	rs104894150

Max Magnitude

6.3

c.601T>A (p.Tyr201Asn)

23andMe name: i5001480

OMIM	609300
Desc
Variant	0027
Related	also

ClinVar
Risk	Rs104894150(A;A) rs104894150(G;G)
Alt	Rs104894150(A;A) rs104894150(G;G)
Reference	Rs104894150(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.104594607A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001873.3,