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rs1057517118

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517118(A;C)
Make rs1057517118(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119499315
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs1057517118
dbSNP (classic)rs1057517118
ClinGenrs1057517118
ebirs1057517118
HLIrs1057517118
Exacrs1057517118
Gnomadrs1057517118
Varsomers1057517118
LitVarrs1057517118
Maprs1057517118
PheGenIrs1057517118
Biobankrs1057517118
1000 genomesrs1057517118
hgdprs1057517118
ensemblrs1057517118
geneviewrs1057517118
scholarrs1057517118
googlers1057517118
pharmgkbrs1057517118
gwascentralrs1057517118
openSNPrs1057517118
23andMers1057517118
23andMe allrs1057517118
SNPshotrs1057517118
SNPdbers1057517118
MSV3drs1057517118
GWAS Ctlgrs1057517118
Max Magnitude0
ClinVar
Risk rs1057517118(C;C)
Alt rs1057517118(C;C)
Reference Rs1057517118(A;A)
Significance Probable-Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118835010A>C
CLNSRC
CLNACC RCV000411180.1,