rs104894154

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

10

Position

102835316

Gene

CYP17A1

is a	snp
is	mentioned by
dbSNP	rs104894154
dbSNP (classic)	rs104894154
ClinGen	rs104894154
ebi	rs104894154
HLI	rs104894154
Exac	rs104894154
Gnomad	rs104894154
Varsome	rs104894154
LitVar	rs104894154
Map	rs104894154
PheGenI	rs104894154
Biobank	rs104894154
1000 genomes	rs104894154
hgdp	rs104894154
ensembl	rs104894154
geneview	rs104894154
scholar	rs104894154
google	rs104894154
pharmgkb	rs104894154
gwascentral	rs104894154
openSNP	rs104894154
23andMe	rs104894154
SNPshot	rs104894154
SNPdbe	rs104894154
MSV3d	rs104894154
GWAS Ctlg	rs104894154

Max Magnitude

6.6

c.374G>A (p.Arg125Gln)

23andMe name: i5001477

OMIM	609300
Desc
Variant	0030
Related	also

ClinVar
Risk	Rs104894154(A;A)
Alt	Rs104894154(A;A)
Reference	Rs104894154(G;G)
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.104595073C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001876.5,