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

rs1057516273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516273(A;C)
Make rs1057516273(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119514979
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs1057516273
dbSNP (old)rs1057516273
ClinGenrs1057516273
ebirs1057516273
HLIrs1057516273
Exacrs1057516273
Gnomadrs1057516273
Varsomers1057516273
LitVarrs1057516273
Maprs1057516273
PheGenIrs1057516273
Biobankrs1057516273
1000 genomesrs1057516273
hgdprs1057516273
ensemblrs1057516273
gopubmedrs1057516273
geneviewrs1057516273
scholarrs1057516273
googlers1057516273
pharmgkbrs1057516273
gwascentralrs1057516273
openSNPrs1057516273
23andMers1057516273
23andMe allrs1057516273
SNPshotrs1057516273
SNPdbers1057516273
MSV3drs1057516273
GWAS Ctlgrs1057516273
Max Magnitude0
ClinVar
Risk rs1057516273(C;C)
Alt rs1057516273(C;C)
Reference Rs1057516273(A;A)
Significance Probable-Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118850674A>C
CLNSRC
CLNACC RCV000410725.1,