rs201009485

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs201009485(A;A)

Make rs201009485(A;G)

Reference

GRCh38 38.1/142

Chromosome

5

Position

119525971

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs201009485
dbSNP (classic)	rs201009485
ClinGen	rs201009485
ebi	rs201009485
HLI	rs201009485
Exac	rs201009485
Gnomad	rs201009485
Varsome	rs201009485
LitVar	rs201009485
Map	rs201009485
PheGenI	rs201009485
Biobank	rs201009485
1000 genomes	rs201009485
hgdp	rs201009485
ensembl	rs201009485
geneview	rs201009485
scholar	rs201009485
google	rs201009485
pharmgkb	rs201009485
gwascentral	rs201009485
openSNP	rs201009485
23andMe	rs201009485
SNPshot	rs201009485
SNPdbe	rs201009485
MSV3d	rs201009485
GWAS Ctlg	rs201009485

Max Magnitude

0

ClinVar
Risk	rs201009485(A;A) rs201009485(C;C)
Alt	rs201009485(A;A) rs201009485(C;C)
Reference	Rs201009485(G;G)
Significance	Pathogenic
Disease	Perrault Syndrome Bifunctional peroxisomal enzyme deficiency Gonadal dysgenesis with auditory dysfunction
Variation	info
Gene	HSD17B4
CLNDBN	Perrault Syndrome Bifunctional peroxisomal enzyme deficiency Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Reversed	0
HGVS	NC_000005.9:g.118861666G>A; NC_000005.9:g.118861666G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000270907.1, RCV000326000.1, RCV000125468.3,