rs104894153

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

102837075

Gene

CYP17A1

is a	snp
is	mentioned by
dbSNP	rs104894153
dbSNP (classic)	rs104894153
ClinGen	rs104894153
ebi	rs104894153
HLI	rs104894153
Exac	rs104894153
Gnomad	rs104894153
Varsome	rs104894153
LitVar	rs104894153
Map	rs104894153
PheGenI	rs104894153
Biobank	rs104894153
1000 genomes	rs104894153
hgdp	rs104894153
ensembl	rs104894153
geneview	rs104894153
scholar	rs104894153
google	rs104894153
pharmgkb	rs104894153
gwascentral	rs104894153
openSNP	rs104894153
23andMe	rs104894153
SNPshot	rs104894153
SNPdbe	rs104894153
MSV3d	rs104894153
GWAS Ctlg	rs104894153

Max Magnitude

6.6

c.287G>A (p.Arg96Gln)

23andMe name: i5001478

OMIM	609300
Desc
Variant	0029
Related	also

ClinVar
Risk	Rs104894153(A;A)
Alt	Rs104894153(A;A)
Reference	Rs104894153(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.104596832C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001875.3,