rs104894138

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

102837076

Gene

CYP17A1

is a	snp
is	mentioned by
dbSNP	rs104894138
dbSNP (classic)	rs104894138
ClinGen	rs104894138
ebi	rs104894138
HLI	rs104894138
Exac	rs104894138
Gnomad	rs104894138
Varsome	rs104894138
LitVar	rs104894138
Map	rs104894138
PheGenI	rs104894138
Biobank	rs104894138
1000 genomes	rs104894138
hgdp	rs104894138
ensembl	rs104894138
geneview	rs104894138
scholar	rs104894138
google	rs104894138
pharmgkb	rs104894138
gwascentral	rs104894138
openSNP	rs104894138
23andMe	rs104894138
SNPshot	rs104894138
SNPdbe	rs104894138
MSV3d	rs104894138
GWAS Ctlg	rs104894138

Max Magnitude

6.6

c.286C>T (p.Arg96Trp)

23andMe name: i5001492

OMIM	609300
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs104894138(T;T)
Alt	Rs104894138(T;T)
Reference	Rs104894138(C;C)
Significance	Pathogenic
Disease	Complete combined 17-alpha-hydroxylase/17 not provided
Variation	info
Gene	CYP17A1
CLNDBN	Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency not provided
Reversed	1
HGVS	NC_000010.10:g.104596833G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001858.3, RCV000255053.1,