rs104894139

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	Carrier of an isolated 17,20-lyase deficiency mutation
(G;G)	0	common in clinvar

Make rs104894139(A;A)

Reference

GRCh38 38.1/141

Chromosome

10

Position

102832577

Gene	CYP17A1, CYP17A1-AS1

is a	snp
is	mentioned by
dbSNP	rs104894139
dbSNP (classic)	rs104894139
ClinGen	rs104894139
ebi	rs104894139
HLI	rs104894139
Exac	rs104894139
Gnomad	rs104894139
Varsome	rs104894139
LitVar	rs104894139
Map	rs104894139
PheGenI	rs104894139
Biobank	rs104894139
1000 genomes	rs104894139
hgdp	rs104894139
ensembl	rs104894139
geneview	rs104894139
scholar	rs104894139
google	rs104894139
pharmgkb	rs104894139
gwascentral	rs104894139
openSNP	rs104894139
23andMe	rs104894139
SNPshot	rs104894139
SNPdbe	rs104894139
MSV3d	rs104894139
GWAS Ctlg	rs104894139

Max Magnitude

3

c.1073G>A (p.Arg358Gln)

23andMe name: i5001491

OMIM	609300
Desc
Variant	0013
Related	also

ClinVar
Risk	rs104894139(A;A)
Alt	rs104894139(A;A)
Reference	Rs104894139(G;G)
Significance	Pathogenic
Disease	Isolated 17
Variation	info
Gene	CYP17A1
CLNDBN	Isolated 17,20-lyase deficiency
Reversed	1
HGVS	NC_000010.10:g.104592334C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001861.2,