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rs1057516312

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516312(-;-)
Make rs1057516312(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119531318
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs1057516312
dbSNP (old)rs1057516312
ClinGenrs1057516312
ebirs1057516312
HLIrs1057516312
Exacrs1057516312
Gnomadrs1057516312
Varsomers1057516312
Maprs1057516312
PheGenIrs1057516312
Biobankrs1057516312
1000 genomesrs1057516312
hgdprs1057516312
ensemblrs1057516312
gopubmedrs1057516312
geneviewrs1057516312
scholarrs1057516312
googlers1057516312
pharmgkbrs1057516312
gwascentralrs1057516312
openSNPrs1057516312
23andMers1057516312
23andMe allrs1057516312
SNPshotrs1057516312
SNPdbers1057516312
MSV3drs1057516312
GWAS Ctlgrs1057516312
Max Magnitude0
ClinVar
Risk rs1057516312(-;-)
Alt rs1057516312(-;-)
Reference Rs1057516312(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.118867013delA
CLNSRC
CLNACC RCV000409725.1,