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rs62636519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs62636519(-;-)
Make rs62636519(-;GTGCGGT)
Make rs62636519(GTGCGGT;GTGCGGT)
ReferenceGRCh38 38.1/141
Chromosome6
Position136822683
GenePEX7
is asnp
is mentioned by
dbSNPrs62636519
ebirs62636519
HLIrs62636519
Exacrs62636519
Varsomers62636519
Maprs62636519
PheGenIrs62636519
hapmaprs62636519
1000 genomesrs62636519
hgdprs62636519
ensemblrs62636519
gopubmedrs62636519
geneviewrs62636519
scholarrs62636519
googlers62636519
pharmgkbrs62636519
gwascentralrs62636519
openSNPrs62636519
23andMers62636519
23andMe allrs62636519
SNP Nexus

SNPshotrs62636519
SNPdbers62636519
MSV3drs62636519
GWAS Ctlgrs62636519
Max Magnitude0
ClinVar
Risk rs62636519(GTGCGGT;GTGCGGT)
Alt rs62636519(GTGCGGT;GTGCGGT)
Reference rs62636519(;)
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.137143815_137143821dupGTGCGGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000008232.3, RCV000032115.1,


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