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rs1057517468

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517468(C;T)
Make rs1057517468(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92503130
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517468
dbSNP (classic)rs1057517468
ClinGenrs1057517468
ebirs1057517468
HLIrs1057517468
Exacrs1057517468
Gnomadrs1057517468
Varsomers1057517468
LitVarrs1057517468
Maprs1057517468
PheGenIrs1057517468
Biobankrs1057517468
1000 genomesrs1057517468
hgdprs1057517468
ensemblrs1057517468
geneviewrs1057517468
scholarrs1057517468
googlers1057517468
pharmgkbrs1057517468
gwascentralrs1057517468
openSNPrs1057517468
23andMers1057517468
23andMe allrs1057517468
SNPshotrs1057517468
SNPdbers1057517468
MSV3drs1057517468
GWAS Ctlgrs1057517468
Max Magnitude0
ClinVar
Risk rs1057517468(T;T)
Alt rs1057517468(T;T)
Reference Rs1057517468(C;C)
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.92132444G>A
CLNSRC
CLNACC RCV000410160.1, RCV000412134.1,