rs104894137

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	6.3	Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency
(A;C)	3	Carrier of a partial 17-alpha-hydroxylase/17,20-lyase deficiency mutation
(C;C)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

10

Position

102832626

Gene	CYP17A1, CYP17A1-AS1

is a	snp
is	mentioned by
dbSNP	rs104894137
dbSNP (classic)	rs104894137
ClinGen	rs104894137
ebi	rs104894137
HLI	rs104894137
Exac	rs104894137
Gnomad	rs104894137
Varsome	rs104894137
LitVar	rs104894137
Map	rs104894137
PheGenI	rs104894137
Biobank	rs104894137
1000 genomes	rs104894137
hgdp	rs104894137
ensembl	rs104894137
geneview	rs104894137
scholar	rs104894137
google	rs104894137
pharmgkb	rs104894137
gwascentral	rs104894137
openSNP	rs104894137
23andMe	rs104894137
SNPshot	rs104894137
SNPdbe	rs104894137
MSV3d	rs104894137
GWAS Ctlg	rs104894137

Max Magnitude

6.3

c.1024C>A (p.Pro342Thr)

23andMe name: i5001493

OMIM	609300
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs104894137(A;A)
Alt	Rs104894137(A;A)
Reference	Rs104894137(C;C)
Significance	Pathogenic
Disease	Combined partial 17-alpha-hydroxylase/17
Variation	info
Gene	CYP17A1
CLNDBN	Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency
Reversed	1
HGVS	NC_000010.10:g.104592383G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001856.4,