rs104894142

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

10

Position

102832566

Gene	CYP17A1, CYP17A1-AS1

is a	snp
is	mentioned by
dbSNP	rs104894142
dbSNP (classic)	rs104894142
ClinGen	rs104894142
ebi	rs104894142
HLI	rs104894142
Exac	rs104894142
Gnomad	rs104894142
Varsome	rs104894142
LitVar	rs104894142
Map	rs104894142
PheGenI	rs104894142
Biobank	rs104894142
1000 genomes	rs104894142
hgdp	rs104894142
ensembl	rs104894142
geneview	rs104894142
scholar	rs104894142
google	rs104894142
pharmgkb	rs104894142
gwascentral	rs104894142
openSNP	rs104894142
23andMe	rs104894142
SNPshot	rs104894142
SNPdbe	rs104894142
MSV3d	rs104894142
GWAS Ctlg	rs104894142

Max Magnitude

6.6

c.1084C>T (p.Arg362Cys)

23andMe name: i5001484

OMIM	609300
Desc
Variant	0023
Related	also

ClinVar
Risk	Rs104894142(T;T)
Alt	Rs104894142(T;T)
Reference	Rs104894142(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.104592323G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001869.3,