Have questions? Visit https://www.reddit.com/r/SNPedia

rs61752112

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61752112(C;T)
Make rs61752112(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position35575913
GenePEX12
is asnp
is mentioned by
dbSNPrs61752112
ebirs61752112
HLIrs61752112
Exacrs61752112
Varsomers61752112
Maprs61752112
PheGenIrs61752112
hapmaprs61752112
1000 genomesrs61752112
hgdprs61752112
ensemblrs61752112
gopubmedrs61752112
geneviewrs61752112
scholarrs61752112
googlers61752112
pharmgkbrs61752112
gwascentralrs61752112
openSNPrs61752112
23andMers61752112
23andMe allrs61752112
SNP Nexus

SNPshotrs61752112
SNPdbers61752112
MSV3drs61752112
GWAS Ctlgrs61752112
Max Magnitude0
OMIM601758
Desc
Variant0010
Relatedalso


ClinVar
Risk rs61752112(T;T)
Alt rs61752112(T;T)
Reference rs61752112(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.33902932G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008221.2,



[PMID 15241794] Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.