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rs1057517045

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TAGA;TAGA) 0 common in clinvar
Make rs1057517045(-;-)
Make rs1057517045(-;GATA)
Make rs1057517045(GATA;GATA)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119506856
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs1057517045
dbSNP (old)rs1057517045
ClinGenrs1057517045
ebirs1057517045
HLIrs1057517045
Exacrs1057517045
Gnomadrs1057517045
Varsomers1057517045
Maprs1057517045
PheGenIrs1057517045
Biobankrs1057517045
1000 genomesrs1057517045
hgdprs1057517045
ensemblrs1057517045
gopubmedrs1057517045
geneviewrs1057517045
scholarrs1057517045
googlers1057517045
pharmgkbrs1057517045
gwascentralrs1057517045
openSNPrs1057517045
23andMers1057517045
23andMe allrs1057517045
SNPshotrs1057517045
SNPdbers1057517045
MSV3drs1057517045
GWAS Ctlgrs1057517045
Max Magnitude0
ClinVar
Risk rs1057517045(-;-)
Alt rs1057517045(-;-)
Reference Rs1057517045(TAGA;TAGA)
Significance Probable-Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118842551_118842554delGATA
CLNSRC
CLNACC RCV000409513.1,