Have questions? Visit https://www.reddit.com/r/SNPedia

rs794729224

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794729224(G;T)
Make rs794729224(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position119456320
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs794729224
ebirs794729224
HLIrs794729224
Exacrs794729224
Varsomers794729224
Maprs794729224
PheGenIrs794729224
hapmaprs794729224
1000 genomesrs794729224
hgdprs794729224
ensemblrs794729224
gopubmedrs794729224
geneviewrs794729224
scholarrs794729224
googlers794729224
pharmgkbrs794729224
gwascentralrs794729224
openSNPrs794729224
23andMers794729224
23andMe allrs794729224
SNP Nexus

SNPshotrs794729224
SNPdbers794729224
MSV3drs794729224
GWAS Ctlgrs794729224
Max Magnitude0
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,