rs104894143

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	6.6	Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency
(C;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

102831535

Gene	CYP17A1, CYP17A1-AS1

is a	snp
is	mentioned by
dbSNP	rs104894143
dbSNP (classic)	rs104894143
ClinGen	rs104894143
ebi	rs104894143
HLI	rs104894143
Exac	rs104894143
Gnomad	rs104894143
Varsome	rs104894143
LitVar	rs104894143
Map	rs104894143
PheGenI	rs104894143
Biobank	rs104894143
1000 genomes	rs104894143
hgdp	rs104894143
ensembl	rs104894143
geneview	rs104894143
scholar	rs104894143
google	rs104894143
pharmgkb	rs104894143
gwascentral	rs104894143
openSNP	rs104894143
23andMe	rs104894143
SNPshot	rs104894143
SNPdbe	rs104894143
MSV3d	rs104894143
GWAS Ctlg	rs104894143

Max Magnitude

6.6

OMIM	609300
Desc
Variant	0024
Related	also

ClinVar
Risk	Rs104894143(C;C)
Alt	Rs104894143(C;C)
Reference	Rs104894143(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.104591292A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001870.5,