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rs1057517323

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517323(-;GTGT)
Make rs1057517323(GTGT;GTGT)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119525976
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs1057517323
dbSNP (old)rs1057517323
ClinGenrs1057517323
ebirs1057517323
HLIrs1057517323
Exacrs1057517323
Gnomadrs1057517323
Varsomers1057517323
Maprs1057517323
PheGenIrs1057517323
Biobankrs1057517323
1000 genomesrs1057517323
hgdprs1057517323
ensemblrs1057517323
gopubmedrs1057517323
geneviewrs1057517323
scholarrs1057517323
googlers1057517323
pharmgkbrs1057517323
gwascentralrs1057517323
openSNPrs1057517323
23andMers1057517323
23andMe allrs1057517323
SNPshotrs1057517323
SNPdbers1057517323
MSV3drs1057517323
GWAS Ctlgrs1057517323
Max Magnitude0
ClinVar
Risk rs1057517323(GTGT;GTGT)
Alt rs1057517323(GTGT;GTGT)
Reference Rs1057517323(-;-)
Significance Probable-Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118861668_118861671dupGTGT
CLNSRC
CLNACC RCV000410124.1,