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rs368744809

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs368744809(G;T)
Make rs368744809(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position119493897
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs368744809
ebirs368744809
HLIrs368744809
Exacrs368744809
Varsomers368744809
Maprs368744809
PheGenIrs368744809
hapmaprs368744809
1000 genomesrs368744809
hgdprs368744809
ensemblrs368744809
gopubmedrs368744809
geneviewrs368744809
scholarrs368744809
googlers368744809
pharmgkbrs368744809
gwascentralrs368744809
openSNPrs368744809
23andMers368744809
23andMe allrs368744809
SNP Nexus

SNPshotrs368744809
SNPdbers368744809
MSV3drs368744809
GWAS Ctlgrs368744809
Max Magnitude0
ClinVar
Risk rs368744809(T;T)
Alt rs368744809(T;T)
Reference rs368744809(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.118829592G>T
CLNSRC
CLNACC RCV000184045.1,