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rs1057517485

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517485(C;T)
Make rs1057517485(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92499736
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517485
dbSNP (old)rs1057517485
ClinGenrs1057517485
ebirs1057517485
HLIrs1057517485
Exacrs1057517485
Gnomadrs1057517485
Varsomers1057517485
Maprs1057517485
PheGenIrs1057517485
Biobankrs1057517485
1000 genomesrs1057517485
hgdprs1057517485
ensemblrs1057517485
gopubmedrs1057517485
geneviewrs1057517485
scholarrs1057517485
googlers1057517485
pharmgkbrs1057517485
gwascentralrs1057517485
openSNPrs1057517485
23andMers1057517485
23andMe allrs1057517485
SNPshotrs1057517485
SNPdbers1057517485
MSV3drs1057517485
GWAS Ctlgrs1057517485
Max Magnitude0
ClinVar
Risk rs1057517485(T;T)
Alt rs1057517485(T;T)
Reference Rs1057517485(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.92129050G>A
CLNSRC
CLNACC RCV000409416.1, RCV000411881.1,