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rs1057516672

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516672(-;A)
Make rs1057516672(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119475721
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs1057516672
dbSNP (old)rs1057516672
ClinGenrs1057516672
ebirs1057516672
HLIrs1057516672
Exacrs1057516672
Gnomadrs1057516672
Varsomers1057516672
Maprs1057516672
PheGenIrs1057516672
Biobankrs1057516672
1000 genomesrs1057516672
hgdprs1057516672
ensemblrs1057516672
gopubmedrs1057516672
geneviewrs1057516672
scholarrs1057516672
googlers1057516672
pharmgkbrs1057516672
gwascentralrs1057516672
openSNPrs1057516672
23andMers1057516672
23andMe allrs1057516672
SNPshotrs1057516672
SNPdbers1057516672
MSV3drs1057516672
GWAS Ctlgrs1057516672
Max Magnitude0
ClinVar
Risk rs1057516672(A;A)
Alt rs1057516672(A;A)
Reference Rs1057516672(-;-)
Significance Probable-Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118811416dupA
CLNSRC
CLNACC RCV000410199.1,