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rs1057516859

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs1057516859(-;-)
Make rs1057516859(-;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119514983
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs1057516859
dbSNP (old)rs1057516859
ClinGenrs1057516859
ebirs1057516859
HLIrs1057516859
Exacrs1057516859
Gnomadrs1057516859
Varsomers1057516859
Maprs1057516859
PheGenIrs1057516859
Biobankrs1057516859
1000 genomesrs1057516859
hgdprs1057516859
ensemblrs1057516859
gopubmedrs1057516859
geneviewrs1057516859
scholarrs1057516859
googlers1057516859
pharmgkbrs1057516859
gwascentralrs1057516859
openSNPrs1057516859
23andMers1057516859
23andMe allrs1057516859
SNPshotrs1057516859
SNPdbers1057516859
MSV3drs1057516859
GWAS Ctlgrs1057516859
Max Magnitude0
ClinVar
Risk rs1057516859(-;-)
Alt rs1057516859(-;-)
Reference Rs1057516859(AG;AG)
Significance Probable-Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118850678_118850679delAG
CLNSRC
CLNACC RCV000409302.1,