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rs1057517489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517489(G;T)
Make rs1057517489(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92507032
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517489
dbSNP (old)rs1057517489
ClinGenrs1057517489
ebirs1057517489
HLIrs1057517489
Exacrs1057517489
Gnomadrs1057517489
Varsomers1057517489
Maprs1057517489
PheGenIrs1057517489
Biobankrs1057517489
1000 genomesrs1057517489
hgdprs1057517489
ensemblrs1057517489
gopubmedrs1057517489
geneviewrs1057517489
scholarrs1057517489
googlers1057517489
pharmgkbrs1057517489
gwascentralrs1057517489
openSNPrs1057517489
23andMers1057517489
23andMe allrs1057517489
SNPshotrs1057517489
SNPdbers1057517489
MSV3drs1057517489
GWAS Ctlgrs1057517489
Max Magnitude0
ClinVar
Risk rs1057517489(T;T)
Alt rs1057517489(T;T)
Reference Rs1057517489(G;G)
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.92136346C>A
CLNSRC
CLNACC RCV000409232.1, RCV000411702.1,