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rs1057516958

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516958(G;T)
Make rs1057516958(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119475871
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs1057516958
dbSNP (old)rs1057516958
ClinGenrs1057516958
ebirs1057516958
HLIrs1057516958
Exacrs1057516958
Gnomadrs1057516958
Varsomers1057516958
Maprs1057516958
PheGenIrs1057516958
Biobankrs1057516958
1000 genomesrs1057516958
hgdprs1057516958
ensemblrs1057516958
gopubmedrs1057516958
geneviewrs1057516958
scholarrs1057516958
googlers1057516958
pharmgkbrs1057516958
gwascentralrs1057516958
openSNPrs1057516958
23andMers1057516958
23andMe allrs1057516958
SNPshotrs1057516958
SNPdbers1057516958
MSV3drs1057516958
GWAS Ctlgrs1057516958
Max Magnitude0
ClinVar
Risk rs1057516958(T;T)
Alt rs1057516958(T;T)
Reference Rs1057516958(G;G)
Significance Probable-Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118811566G>T
CLNSRC
CLNACC RCV000412316.1,