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rs61753233

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs61753233(A;C)
Make rs61753233(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position136822705
GenePEX7
is asnp
is mentioned by
dbSNPrs61753233
ebirs61753233
HLIrs61753233
Exacrs61753233
Varsomers61753233
Maprs61753233
PheGenIrs61753233
hapmaprs61753233
1000 genomesrs61753233
hgdprs61753233
ensemblrs61753233
gopubmedrs61753233
geneviewrs61753233
scholarrs61753233
googlers61753233
pharmgkbrs61753233
gwascentralrs61753233
openSNPrs61753233
23andMers61753233
23andMe allrs61753233
SNP Nexus

SNPshotrs61753233
SNPdbers61753233
MSV3drs61753233
GWAS Ctlgrs61753233
Max Magnitude0
OMIM601757
Desc
Variant0011
Relatedalso
ClinVar
Risk rs61753233(C;C)
Alt rs61753233(C;C)
Reference rs61753233(A;A)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1
Variation info
Gene PEX7
CLNDBN Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1
Reversed 0
HGVS NC_000006.11:g.137143843A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008233.3, RCV000032117.1,


[PMID 12522768OA-icon.png] Identification of PEX7 as the second gene involved in Refsum disease.