rs104894155

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

102830982

Gene	CYP17A1, CYP17A1-AS1

is a	snp
is	mentioned by
dbSNP	rs104894155
dbSNP (classic)	rs104894155
ClinGen	rs104894155
ebi	rs104894155
HLI	rs104894155
Exac	rs104894155
Gnomad	rs104894155
Varsome	rs104894155
LitVar	rs104894155
Map	rs104894155
PheGenI	rs104894155
Biobank	rs104894155
1000 genomes	rs104894155
hgdp	rs104894155
ensembl	rs104894155
geneview	rs104894155
scholar	rs104894155
google	rs104894155
pharmgkb	rs104894155
gwascentral	rs104894155
openSNP	rs104894155
23andMe	rs104894155
SNPshot	rs104894155
SNPdbe	rs104894155
MSV3d	rs104894155
GWAS Ctlg	rs104894155

Max Magnitude

6.6

c.1247G>A (p.Arg416His)

23andMe name: i5001476

OMIM	609300
Desc
Variant	0031
Related	also

ClinVar
Risk	Rs104894155(A;A)
Alt	Rs104894155(A;A)
Reference	Rs104894155(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.104590739C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001877.5,