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rs28936698

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28936698(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position35577445
GenePEX12
is asnp
is mentioned by
dbSNPrs28936698
ebirs28936698
HLIrs28936698
Exacrs28936698
Varsomers28936698
Maprs28936698
PheGenIrs28936698
hapmaprs28936698
1000 genomesrs28936698
hgdprs28936698
ensemblrs28936698
gopubmedrs28936698
geneviewrs28936698
scholarrs28936698
googlers28936698
pharmgkbrs28936698
gwascentralrs28936698
openSNPrs28936698
23andMers28936698
23andMe allrs28936698
SNP Nexus

SNPshotrs28936698
SNPdbers28936698
MSV3drs28936698
GWAS Ctlgrs28936698
Max Magnitude0
OMIM601758
DescPEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3
Variant0009
Relatedalso


ClinVar
Risk rs28936698(T;T)
Alt rs28936698(T;T)
Reference rs28936698(A;A)
Significance Pathogenic
Disease Peroxisomal biogenesis disorder 3b
Variation info
Gene PEX12
CLNDBN Peroxisomal biogenesis disorder 3b
Reversed 1
HGVS NC_000017.10:g.33904464T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008220.2,