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rs61752123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61752123(C;T)
Make rs61752123(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position76983824
GenePEX2
is asnp
is mentioned by
dbSNPrs61752123
ebirs61752123
HLIrs61752123
Exacrs61752123
Varsomers61752123
Maprs61752123
PheGenIrs61752123
hapmaprs61752123
1000 genomesrs61752123
hgdprs61752123
ensemblrs61752123
gopubmedrs61752123
geneviewrs61752123
scholarrs61752123
googlers61752123
pharmgkbrs61752123
gwascentralrs61752123
openSNPrs61752123
23andMers61752123
23andMe allrs61752123
SNP Nexus

SNPshotrs61752123
SNPdbers61752123
MSV3drs61752123
GWAS Ctlgrs61752123
Max Magnitude0
OMIM170993
Desc
Variant0001
Relatedalso
ClinVar
Risk rs61752123(T;T)
Alt rs61752123(T;T)
Reference rs61752123(C;C)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 5a (zellweger) Peroxisome biogenesis disorder 5B
Variation info
Gene PEX2
CLNDBN Peroxisome biogenesis disorder 5a (zellweger) Peroxisome biogenesis disorder 5B
Reversed 1
HGVS NC_000008.10:g.77896060G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014703.23, RCV000032924.23,


[PMID 9585609OA-icon.png] Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders.