rs794729224

Orientation

plus

Stabilized

plus

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

Make rs794729224(G;T)

Make rs794729224(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

119456320

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs794729224
dbSNP (classic)	rs794729224
ClinGen	rs794729224
ebi	rs794729224
HLI	rs794729224
Exac	rs794729224
Gnomad	rs794729224
Varsome	rs794729224
LitVar	rs794729224
Map	rs794729224
PheGenI	rs794729224
Biobank	rs794729224
1000 genomes	rs794729224
hgdp	rs794729224
ensembl	rs794729224
geneview	rs794729224
scholar	rs794729224
google	rs794729224
pharmgkb	rs794729224
gwascentral	rs794729224
openSNP	rs794729224
23andMe	rs794729224
SNPshot	rs794729224
SNPdbe	rs794729224
MSV3d	rs794729224
GWAS Ctlg	rs794729224

Max Magnitude

0

ClinVar
Risk	rs794729224(T;T)
Alt	rs794729224(T;T)
Reference	Rs794729224(G;G)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118792015G>T
CLNSRC
CLNACC	RCV000184045.1,