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rs28936697

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28936697(C;T)
Make rs28936697(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position35575903
GenePEX12
is asnp
is mentioned by
dbSNPrs28936697
ebirs28936697
HLIrs28936697
Exacrs28936697
Varsomers28936697
Maprs28936697
PheGenIrs28936697
hapmaprs28936697
1000 genomesrs28936697
hgdprs28936697
ensemblrs28936697
gopubmedrs28936697
geneviewrs28936697
scholarrs28936697
googlers28936697
pharmgkbrs28936697
gwascentralrs28936697
openSNPrs28936697
23andMers28936697
23andMe allrs28936697
SNP Nexus

SNPshotrs28936697
SNPdbers28936697
MSV3drs28936697
GWAS Ctlgrs28936697
Max Magnitude0
OMIM601758
DescPEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3
Variant0006
Relatedalso
Neighborrs12941376
Distance226


ClinVar
Risk rs28936697(T;T)
Alt rs28936697(T;T)
Reference rs28936697(C;C)
Significance Pathogenic
Disease Peroxisomal biogenesis disorder 3b
Variation info
Gene PEX12
CLNDBN Peroxisomal biogenesis disorder 3b
Reversed 1
HGVS NC_000017.10:g.33902922G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008217.2,