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rs1057517478

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517478(-;-)
Make rs1057517478(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92504895
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517478
dbSNP (old)rs1057517478
ClinGenrs1057517478
ebirs1057517478
HLIrs1057517478
Exacrs1057517478
Gnomadrs1057517478
Varsomers1057517478
Maprs1057517478
PheGenIrs1057517478
Biobankrs1057517478
1000 genomesrs1057517478
hgdprs1057517478
ensemblrs1057517478
gopubmedrs1057517478
geneviewrs1057517478
scholarrs1057517478
googlers1057517478
pharmgkbrs1057517478
gwascentralrs1057517478
openSNPrs1057517478
23andMers1057517478
23andMe allrs1057517478
SNPshotrs1057517478
SNPdbers1057517478
MSV3drs1057517478
GWAS Ctlgrs1057517478
Max Magnitude0
ClinVar
Risk rs1057517478(-;-)
Alt rs1057517478(-;-)
Reference Rs1057517478(G;G)
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.92134209delC
CLNSRC
CLNACC RCV000410544.1, RCV000411204.1,