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rs28940308

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28940308(A;A)
Make rs28940308(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position18079908
GenePEX26
is asnp
is mentioned by
dbSNPrs28940308
ClinGenrs28940308
ebirs28940308
HLIrs28940308
Exacrs28940308
Varsomers28940308
Maprs28940308
PheGenIrs28940308
hapmaprs28940308
1000 genomesrs28940308
hgdprs28940308
ensemblrs28940308
gopubmedrs28940308
geneviewrs28940308
scholarrs28940308
googlers28940308
pharmgkbrs28940308
gwascentralrs28940308
openSNPrs28940308
23andMers28940308
23andMe allrs28940308
SNP Nexus

SNPshotrs28940308
SNPdbers28940308
MSV3drs28940308
GWAS Ctlgrs28940308
Max Magnitude0
OMIM608666
DescZELLWEGER SYNDROME
Variant0002
Relatedalso


ClinVar
Risk rs28940308(A;A)
Alt rs28940308(A;A)
Reference Rs28940308(G;G)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 7A
Variation info
Gene PEX26
CLNDBN Peroxisome biogenesis disorder 7A
Reversed 0
HGVS NC_000022.10:g.18562674G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002236.2,