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rs1057517486

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517486(-;AGCCATC)
Make rs1057517486(AGCCATC;AGCCATC)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92504832
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517486
dbSNP (old)rs1057517486
ClinGenrs1057517486
ebirs1057517486
HLIrs1057517486
Exacrs1057517486
Gnomadrs1057517486
Varsomers1057517486
LitVarrs1057517486
Maprs1057517486
PheGenIrs1057517486
Biobankrs1057517486
1000 genomesrs1057517486
hgdprs1057517486
ensemblrs1057517486
gopubmedrs1057517486
geneviewrs1057517486
scholarrs1057517486
googlers1057517486
pharmgkbrs1057517486
gwascentralrs1057517486
openSNPrs1057517486
23andMers1057517486
23andMe allrs1057517486
SNPshotrs1057517486
SNPdbers1057517486
MSV3drs1057517486
GWAS Ctlgrs1057517486
Max Magnitude0
ClinVar
Risk rs1057517486(AGCCATC;AGCCATC)
Alt rs1057517486(AGCCATC;AGCCATC)
Reference Rs1057517486(-;-)
Significance Probable-Pathogenic
Disease Peroxisome biogenesis disorder 1B Zellweger syndrome
Variation info
Gene PEX1
CLNDBN Peroxisome biogenesis disorder 1B Zellweger syndrome
Reversed 1
HGVS NC_000007.13:g.92134147_92134153dupGATGGCT
CLNSRC
CLNACC RCV000410249.1, RCV000412254.1,