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rs61750435

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common in clinvar
Make rs61750435(-;A)
Make rs61750435(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position2406791
GenePEX10
is asnp
is mentioned by
dbSNPrs61750435
dbSNP (classic)rs61750435
ClinGenrs61750435
ebirs61750435
HLIrs61750435
Exacrs61750435
Gnomadrs61750435
Varsomers61750435
LitVarrs61750435
Maprs61750435
PheGenIrs61750435
Biobankrs61750435
1000 genomesrs61750435
hgdprs61750435
ensemblrs61750435
geneviewrs61750435
scholarrs61750435
googlers61750435
pharmgkbrs61750435
gwascentralrs61750435
openSNPrs61750435
23andMers61750435
SNPshotrs61750435
SNPdbers61750435
MSV3drs61750435
GWAS Ctlgrs61750435
Max Magnitude0
ClinVar
Risk rs61750435(A;A)
Alt rs61750435(A;A)
Reference Rs61750435(-;-)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 6A Peroxisome biogenesis disorder 6B not provided
Variation info
Gene PEX10
CLNDBN Peroxisome biogenesis disorder 6A Peroxisome biogenesis disorder 6B not provided
Reversed 1
HGVS NC_000001.10:g.2338231dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000007176.5, RCV000149808.5, RCV000324305.1,


[PMID 10862081] Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.