rs104894147

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

102835350

Gene

CYP17A1

is a	snp
is	mentioned by
dbSNP	rs104894147
dbSNP (classic)	rs104894147
ClinGen	rs104894147
ebi	rs104894147
HLI	rs104894147
Exac	rs104894147
Gnomad	rs104894147
Varsome	rs104894147
LitVar	rs104894147
Map	rs104894147
PheGenI	rs104894147
Biobank	rs104894147
1000 genomes	rs104894147
hgdp	rs104894147
ensembl	rs104894147
geneview	rs104894147
scholar	rs104894147
google	rs104894147
pharmgkb	rs104894147
gwascentral	rs104894147
openSNP	rs104894147
23andMe	rs104894147
SNPshot	rs104894147
SNPdbe	rs104894147
MSV3d	rs104894147
GWAS Ctlg	rs104894147

Max Magnitude

6.6

c.340T>G (p.Phe114Val)

23andMe name: i5001487

OMIM	609300
Desc
Variant	0019
Related	also

ClinVar
Risk	Rs104894147(G;G)
Alt	Rs104894147(G;G)
Reference	Rs104894147(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.104595107A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001865.5,