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rs61752119

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61752119(A;A)
Make rs61752119(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position76984016
GenePEX2
is asnp
is mentioned by
dbSNPrs61752119
ebirs61752119
HLIrs61752119
Exacrs61752119
Varsomers61752119
Maprs61752119
PheGenIrs61752119
hapmaprs61752119
1000 genomesrs61752119
hgdprs61752119
ensemblrs61752119
gopubmedrs61752119
geneviewrs61752119
scholarrs61752119
googlers61752119
pharmgkbrs61752119
gwascentralrs61752119
openSNPrs61752119
23andMers61752119
23andMe allrs61752119
SNP Nexus

SNPshotrs61752119
SNPdbers61752119
MSV3drs61752119
GWAS Ctlgrs61752119
Max Magnitude0
OMIM170993
Desc
Variant0002
Relatedalso


ClinVar
Risk rs61752119(A;A)
Alt rs61752119(A;A)
Reference rs61752119(G;G)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 5B
Variation info
Gene PEX2
CLNDBN Peroxisome biogenesis disorder 5B
Reversed 1
HGVS NC_000008.10:g.77896252C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014704.25,



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