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

rs1057516936

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1057516936(-;-)
Make rs1057516936(-;CT)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119527169
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs1057516936
dbSNP (old)rs1057516936
ClinGenrs1057516936
ebirs1057516936
HLIrs1057516936
Exacrs1057516936
Gnomadrs1057516936
Varsomers1057516936
Maprs1057516936
PheGenIrs1057516936
Biobankrs1057516936
1000 genomesrs1057516936
hgdprs1057516936
ensemblrs1057516936
gopubmedrs1057516936
geneviewrs1057516936
scholarrs1057516936
googlers1057516936
pharmgkbrs1057516936
gwascentralrs1057516936
openSNPrs1057516936
23andMers1057516936
23andMe allrs1057516936
SNPshotrs1057516936
SNPdbers1057516936
MSV3drs1057516936
GWAS Ctlgrs1057516936
Max Magnitude0
ClinVar
Risk rs1057516936(-;-)
Alt rs1057516936(-;-)
Reference Rs1057516936(CT;CT)
Significance Probable-Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118862864_118862865delCT
CLNSRC
CLNACC RCV000410138.1,