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rs1057517463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517463(-;G)
Make rs1057517463(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92511008
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517463
dbSNP (old)rs1057517463
ClinGenrs1057517463
ebirs1057517463
HLIrs1057517463
Exacrs1057517463
Gnomadrs1057517463
Varsomers1057517463
LitVarrs1057517463
Maprs1057517463
PheGenIrs1057517463
Biobankrs1057517463
1000 genomesrs1057517463
hgdprs1057517463
ensemblrs1057517463
gopubmedrs1057517463
geneviewrs1057517463
scholarrs1057517463
googlers1057517463
pharmgkbrs1057517463
gwascentralrs1057517463
openSNPrs1057517463
23andMers1057517463
23andMe allrs1057517463
SNPshotrs1057517463
SNPdbers1057517463
MSV3drs1057517463
GWAS Ctlgrs1057517463
Max Magnitude0
ClinVar
Risk rs1057517463(G;G)
Alt rs1057517463(G;G)
Reference Rs1057517463(-;-)
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.92140323dupC
CLNSRC
CLNACC RCV000409648.1, RCV000412085.1,