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rs62641228

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs62641228(C;T)
Make rs62641228(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position18079935
GenePEX26
is asnp
is mentioned by
dbSNPrs62641228
ebirs62641228
HLIrs62641228
Exacrs62641228
Varsomers62641228
Maprs62641228
PheGenIrs62641228
hapmaprs62641228
1000 genomesrs62641228
hgdprs62641228
ensemblrs62641228
gopubmedrs62641228
geneviewrs62641228
scholarrs62641228
googlers62641228
pharmgkbrs62641228
gwascentralrs62641228
openSNPrs62641228
23andMers62641228
23andMe allrs62641228
SNP Nexus

SNPshotrs62641228
SNPdbers62641228
MSV3drs62641228
GWAS Ctlgrs62641228
Max Magnitude0
OMIM608666
Desc
Variant0001
Relatedalso


ClinVar
Risk rs62641228(T;T)
Alt rs62641228(T;T)
Reference rs62641228(C;C)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 7B
Variation info
Gene PEX26
CLNDBN Peroxisome biogenesis disorder 7B
Reversed 0
HGVS NC_000022.10:g.18562701C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002234.2,



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