rs104894145

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

10

Position

102830946

Gene	CYP17A1, CYP17A1-AS1

is a	snp
is	mentioned by
dbSNP	rs104894145
dbSNP (classic)	rs104894145
ClinGen	rs104894145
ebi	rs104894145
HLI	rs104894145
Exac	rs104894145
Gnomad	rs104894145
Varsome	rs104894145
LitVar	rs104894145
Map	rs104894145
PheGenI	rs104894145
Biobank	rs104894145
1000 genomes	rs104894145
hgdp	rs104894145
ensembl	rs104894145
geneview	rs104894145
scholar	rs104894145
google	rs104894145
pharmgkb	rs104894145
gwascentral	rs104894145
openSNP	rs104894145
23andMe	rs104894145
SNPshot	rs104894145
SNPdbe	rs104894145
MSV3d	rs104894145
GWAS Ctlg	rs104894145

Max Magnitude

6.6

c.1283C>T (p.Pro428Leu)

23andMe name: i5001481

OMIM	609300
Desc
Variant	0026
Related	also

ClinVar
Risk	Rs104894145(T;T)
Alt	Rs104894145(T;T)
Reference	Rs104894145(C;C)
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.104590703G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001872.3,