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rs1057517503

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517503(-;-)
Make rs1057517503(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92496773
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517503
dbSNP (classic)rs1057517503
ClinGenrs1057517503
ebirs1057517503
HLIrs1057517503
Exacrs1057517503
Gnomadrs1057517503
Varsomers1057517503
LitVarrs1057517503
Maprs1057517503
PheGenIrs1057517503
Biobankrs1057517503
1000 genomesrs1057517503
hgdprs1057517503
ensemblrs1057517503
geneviewrs1057517503
scholarrs1057517503
googlers1057517503
pharmgkbrs1057517503
gwascentralrs1057517503
openSNPrs1057517503
23andMers1057517503
23andMe allrs1057517503
SNPshotrs1057517503
SNPdbers1057517503
MSV3drs1057517503
GWAS Ctlgrs1057517503
Max Magnitude0
ClinVar
Risk rs1057517503(-;-)
Alt rs1057517503(-;-)
Reference Rs1057517503(C;C)
Significance Probable-Pathogenic
Disease Zellweger syndrome Peroxisome biogenesis disorder 1B
Variation info
Gene PEX1
CLNDBN Zellweger syndrome Peroxisome biogenesis disorder 1B
Reversed 1
HGVS NC_000007.13:g.92126087delG
CLNSRC
CLNACC RCV000410900.1, RCV000412482.1,