rs121434319

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

10

Position

102837203

Gene

CYP17A1

is a	snp
is	mentioned by
dbSNP	rs121434319
dbSNP (classic)	rs121434319
ClinGen	rs121434319
ebi	rs121434319
HLI	rs121434319
Exac	rs121434319
Gnomad	rs121434319
Varsome	rs121434319
LitVar	rs121434319
Map	rs121434319
PheGenI	rs121434319
Biobank	rs121434319
1000 genomes	rs121434319
hgdp	rs121434319
ensembl	rs121434319
geneview	rs121434319
scholar	rs121434319
google	rs121434319
pharmgkb	rs121434319
gwascentral	rs121434319
openSNP	rs121434319
23andMe	rs121434319
SNPshot	rs121434319
SNPdbe	rs121434319
MSV3d	rs121434319
GWAS Ctlg	rs121434319

Max Magnitude

6.3

OMIM	609300
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs121434319(-;-)
Alt	Rs121434319(-;-)
Reference	Rs121434319(TTC;TTC)
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.104596960_104596962delGAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001850.2,