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rs61752132

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs61752132(C;C)
Make rs61752132(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position18078510
GenePEX26
is asnp
is mentioned by
dbSNPrs61752132
dbSNP (classic)rs61752132
ClinGenrs61752132
ebirs61752132
HLIrs61752132
Exacrs61752132
Gnomadrs61752132
Varsomers61752132
LitVarrs61752132
Maprs61752132
PheGenIrs61752132
Biobankrs61752132
1000 genomesrs61752132
hgdprs61752132
ensemblrs61752132
geneviewrs61752132
scholarrs61752132
googlers61752132
pharmgkbrs61752132
gwascentralrs61752132
openSNPrs61752132
23andMers61752132
SNPshotrs61752132
SNPdbers61752132
MSV3drs61752132
GWAS Ctlgrs61752132
Max Magnitude0
OMIM608666
Desc
Variant0006
Relatedalso


ClinVar
Risk rs61752132(C;C)
Alt rs61752132(C;C)
Reference Rs61752132(T;T)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 7B Zellweger syndrome
Variation info
Gene PEX26
CLNDBN Peroxisome biogenesis disorder 7B Zellweger syndrome
Reversed 0
HGVS NC_000022.10:g.18561276T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002240.3, RCV000351940.1,



[PMID 15858711OA-icon.png] Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.