rs969485098

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119493820

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs969485098
dbSNP (classic)	rs969485098
ClinGen	rs969485098
ebi	rs969485098
HLI	rs969485098
Exac	rs969485098
Gnomad	rs969485098
Varsome	rs969485098
LitVar	rs969485098
Map	rs969485098
PheGenI	rs969485098
Biobank	rs969485098
1000 genomes	rs969485098
hgdp	rs969485098
ensembl	rs969485098
geneview	rs969485098
scholar	rs969485098
google	rs969485098
pharmgkb	rs969485098
gwascentral	rs969485098
openSNP	rs969485098
23andMe	rs969485098
SNPshot	rs969485098
SNPdbe	rs969485098
MSV3d	rs969485098
GWAS Ctlg	rs969485098

Max Magnitude

0

ClinVar
Risk	rs969485098(T;T)
Alt	rs969485098(T;T)
Reference	Rs969485098(C;C)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118829515C>T
CLNSRC
CLNACC	RCV000409273.1,