rs104894135

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

102835374

Gene

CYP17A1

is a	snp
is	mentioned by
dbSNP	rs104894135
dbSNP (classic)	rs104894135
ClinGen	rs104894135
ebi	rs104894135
HLI	rs104894135
Exac	rs104894135
Gnomad	rs104894135
Varsome	rs104894135
LitVar	rs104894135
Map	rs104894135
PheGenI	rs104894135
Biobank	rs104894135
1000 genomes	rs104894135
hgdp	rs104894135
ensembl	rs104894135
geneview	rs104894135
scholar	rs104894135
google	rs104894135
pharmgkb	rs104894135
gwascentral	rs104894135
openSNP	rs104894135
23andMe	rs104894135
SNPshot	rs104894135
SNPdbe	rs104894135
MSV3d	rs104894135
GWAS Ctlg	rs104894135

Max Magnitude

6.6

c.316T>C (p.Ser106Pro)

23andMe name: i5001495

OMIM	609300
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs104894135(C;C)
Alt	Rs104894135(C;C)
Reference	Rs104894135(T;T)
Significance	Pathogenic
Disease	Complete combined 17-alpha-hydroxylase/17 not provided
Variation	info
Gene	CYP17A1
CLNDBN	Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency not provided
Reversed	1
HGVS	NC_000010.10:g.104595131A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001852.2, RCV000288112.1,