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rs74315506

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315506(C;C)
Make rs74315506(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position18078378
GenePEX26
is asnp
is mentioned by
dbSNPrs74315506
dbSNP (classic)rs74315506
ClinGenrs74315506
ebirs74315506
HLIrs74315506
Exacrs74315506
Gnomadrs74315506
Varsomers74315506
LitVarrs74315506
Maprs74315506
PheGenIrs74315506
Biobankrs74315506
1000 genomesrs74315506
hgdprs74315506
ensemblrs74315506
geneviewrs74315506
scholarrs74315506
googlers74315506
pharmgkbrs74315506
gwascentralrs74315506
openSNPrs74315506
23andMers74315506
SNPshotrs74315506
SNPdbers74315506
MSV3drs74315506
GWAS Ctlgrs74315506
Max Magnitude0
OMIM608666
Desc
Variant0005
Relatedalso
ClinVar
Risk rs74315506(C;C)
Alt rs74315506(C;C)
Reference Rs74315506(T;T)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 7B
Variation info
Gene PEX26
CLNDBN Peroxisome biogenesis disorder 7B
Reversed 0
HGVS NC_000022.10:g.18561144T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002239.3,