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rs863225438

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTGA;GTGA) 0 common in clinvar
Make rs863225438(-;-)
Make rs863225438(-;GTGA)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position119475728
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs863225438
dbSNP (old)rs863225438
ClinGenrs863225438
ebirs863225438
HLIrs863225438
Exacrs863225438
Varsomers863225438
Maprs863225438
PheGenIrs863225438
Biobankrs863225438
1000 genomesrs863225438
hgdprs863225438
ensemblrs863225438
gopubmedrs863225438
geneviewrs863225438
scholarrs863225438
googlers863225438
pharmgkbrs863225438
gwascentralrs863225438
openSNPrs863225438
23andMers863225438
23andMe allrs863225438
SNP Nexus

SNPshotrs863225438
SNPdbers863225438
MSV3drs863225438
GWAS Ctlgrs863225438
Max Magnitude0
ClinVar
Risk rs863225438(-;-)
Alt rs863225438(-;-)
Reference Rs863225438(GTGA;GTGA)
Significance Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118811423_118811426delGTGA
CLNSRC
CLNACC RCV000202368.1,