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rs61750434

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61750434(C;T)
Make rs61750434(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position2408679
GenePEX10
is asnp
is mentioned by
dbSNPrs61750434
ebirs61750434
HLIrs61750434
Exacrs61750434
Varsomers61750434
Maprs61750434
PheGenIrs61750434
hapmaprs61750434
1000 genomesrs61750434
hgdprs61750434
ensemblrs61750434
gopubmedrs61750434
geneviewrs61750434
scholarrs61750434
googlers61750434
pharmgkbrs61750434
gwascentralrs61750434
openSNPrs61750434
23andMers61750434
23andMe allrs61750434
SNP Nexus

SNPshotrs61750434
SNPdbers61750434
MSV3drs61750434
GWAS Ctlgrs61750434
Max Magnitude0
OMIM602859
Desc
Variant0003
Relatedalso


ClinVar
Risk rs61750434(T;T)
Alt rs61750434(T;T)
Reference rs61750434(C;C)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 6B
Variation info
Gene PEX10
CLNDBN Peroxisome biogenesis disorder 6B
Reversed 1
HGVS NC_000001.10:g.2340118G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007174.3,



[PMID 9683594OA-icon.png] Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.