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rs121434455

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434455(C;C)
Make rs121434455(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position92504812
GenePEX1
is asnp
is mentioned by
dbSNPrs121434455
ebirs121434455
HLIrs121434455
Exacrs121434455
Varsomers121434455
Maprs121434455
PheGenIrs121434455
hapmaprs121434455
1000 genomesrs121434455
hgdprs121434455
ensemblrs121434455
gopubmedrs121434455
geneviewrs121434455
scholarrs121434455
googlers121434455
pharmgkbrs121434455
gwascentralrs121434455
openSNPrs121434455
23andMers121434455
23andMe allrs121434455
SNP Nexus

SNPshotrs121434455
SNPdbers121434455
MSV3drs121434455
GWAS Ctlgrs121434455
Merged fromRs28939678
Max Magnitude0
OMIM602136
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434455(C;C)
Alt rs121434455(C;C)
Reference rs121434455(T;T)
Significance Other
Disease Zellweger syndrome
Variation info
Gene PEX1
CLNDBN Zellweger syndrome
Reversed 1
HGVS NC_000007.13:g.92134126A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007949.7,


[PMID 11439091OA-icon.png] Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.