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rs1057516269

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516269(C;G)
Make rs1057516269(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119496546
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs1057516269
dbSNP (old)rs1057516269
ClinGenrs1057516269
ebirs1057516269
HLIrs1057516269
Exacrs1057516269
Gnomadrs1057516269
Varsomers1057516269
Maprs1057516269
PheGenIrs1057516269
Biobankrs1057516269
1000 genomesrs1057516269
hgdprs1057516269
ensemblrs1057516269
gopubmedrs1057516269
geneviewrs1057516269
scholarrs1057516269
googlers1057516269
pharmgkbrs1057516269
gwascentralrs1057516269
openSNPrs1057516269
23andMers1057516269
23andMe allrs1057516269
SNPshotrs1057516269
SNPdbers1057516269
MSV3drs1057516269
GWAS Ctlgrs1057516269
Max Magnitude0
ClinVar
Risk rs1057516269(G;G)
Alt rs1057516269(G;G)
Reference Rs1057516269(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.118832241C>G
CLNSRC
CLNACC RCV000410643.1,