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rs1057517217

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517217(C;T)
Make rs1057517217(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119493820
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs1057517217
dbSNP (old)rs1057517217
ClinGenrs1057517217
ebirs1057517217
HLIrs1057517217
Exacrs1057517217
Gnomadrs1057517217
Varsomers1057517217
Maprs1057517217
PheGenIrs1057517217
Biobankrs1057517217
1000 genomesrs1057517217
hgdprs1057517217
ensemblrs1057517217
gopubmedrs1057517217
geneviewrs1057517217
scholarrs1057517217
googlers1057517217
pharmgkbrs1057517217
gwascentralrs1057517217
openSNPrs1057517217
23andMers1057517217
23andMe allrs1057517217
SNPshotrs1057517217
SNPdbers1057517217
MSV3drs1057517217
GWAS Ctlgrs1057517217
Max Magnitude0
ClinVar
Risk rs1057517217(T;T)
Alt rs1057517217(T;T)
Reference Rs1057517217(C;C)
Significance Probable-Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118829515C>T
CLNSRC
CLNACC RCV000409273.1,