rs104894144

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

102832665

Gene	CYP17A1, CYP17A1-AS1

is a	snp
is	mentioned by
dbSNP	rs104894144
dbSNP (classic)	rs104894144
ClinGen	rs104894144
ebi	rs104894144
HLI	rs104894144
Exac	rs104894144
Gnomad	rs104894144
Varsome	rs104894144
LitVar	rs104894144
Map	rs104894144
PheGenI	rs104894144
Biobank	rs104894144
1000 genomes	rs104894144
hgdp	rs104894144
ensembl	rs104894144
geneview	rs104894144
scholar	rs104894144
google	rs104894144
pharmgkb	rs104894144
gwascentral	rs104894144
openSNP	rs104894144
23andMe	rs104894144
SNPshot	rs104894144
SNPdbe	rs104894144
MSV3d	rs104894144
GWAS Ctlg	rs104894144

GMAF

0.0004591

Max Magnitude

6.6

c.985T>G (p.Tyr329Asp)

23andMe name: i5001482

OMIM	609300
Desc
Variant	0025
Related	also

ClinVar
Risk	rs104894144(A;A) Rs104894144(G;G)
Alt	rs104894144(A;A) Rs104894144(G;G)
Reference	Rs104894144(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.104592422A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001871.3,