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rs1057517464

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517464(C;T)
Make rs1057517464(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92504882
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517464
dbSNP (old)rs1057517464
ClinGenrs1057517464
ebirs1057517464
HLIrs1057517464
Exacrs1057517464
Gnomadrs1057517464
Varsomers1057517464
Maprs1057517464
PheGenIrs1057517464
Biobankrs1057517464
1000 genomesrs1057517464
hgdprs1057517464
ensemblrs1057517464
gopubmedrs1057517464
geneviewrs1057517464
scholarrs1057517464
googlers1057517464
pharmgkbrs1057517464
gwascentralrs1057517464
openSNPrs1057517464
23andMers1057517464
23andMe allrs1057517464
SNPshotrs1057517464
SNPdbers1057517464
MSV3drs1057517464
GWAS Ctlgrs1057517464
Max Magnitude0
ClinVar
Risk rs1057517464(T;T)
Alt rs1057517464(T;T)
Reference Rs1057517464(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.92134196G>A
CLNSRC
CLNACC RCV000410165.1, RCV000412147.1,