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rs1057516735

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516735(G;G)
Make rs1057516735(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119506824
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs1057516735
dbSNP (old)rs1057516735
ClinGenrs1057516735
ebirs1057516735
HLIrs1057516735
Exacrs1057516735
Gnomadrs1057516735
Varsomers1057516735
Maprs1057516735
PheGenIrs1057516735
Biobankrs1057516735
1000 genomesrs1057516735
hgdprs1057516735
ensemblrs1057516735
gopubmedrs1057516735
geneviewrs1057516735
scholarrs1057516735
googlers1057516735
pharmgkbrs1057516735
gwascentralrs1057516735
openSNPrs1057516735
23andMers1057516735
23andMe allrs1057516735
SNPshotrs1057516735
SNPdbers1057516735
MSV3drs1057516735
GWAS Ctlgrs1057516735
Max Magnitude0
ClinVar
Risk rs1057516735(G;G)
Alt rs1057516735(G;G)
Reference Rs1057516735(T;T)
Significance Probable-Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118842519T>G
CLNSRC
CLNACC RCV000412021.1,