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rs755412738

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs755412738(A;A)
Make rs755412738(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119525916
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs755412738
dbSNP (classic)rs755412738
ClinGenrs755412738
ebirs755412738
HLIrs755412738
Exacrs755412738
Gnomadrs755412738
Varsomers755412738
LitVarrs755412738
Maprs755412738
PheGenIrs755412738
Biobankrs755412738
1000 genomesrs755412738
hgdprs755412738
ensemblrs755412738
geneviewrs755412738
scholarrs755412738
googlers755412738
pharmgkbrs755412738
gwascentralrs755412738
openSNPrs755412738
23andMers755412738
SNPshotrs755412738
SNPdbers755412738
MSV3drs755412738
GWAS Ctlgrs755412738
Max Magnitude0
ClinVar
Risk rs755412738(A;A)
Alt rs755412738(A;A)
Reference Rs755412738(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.118861611G>A
CLNSRC
CLNACC RCV000411356.1,