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rs61752115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs61752115(C;C)
Make rs61752115(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position61048535
GenePEX13
is asnp
is mentioned by
dbSNPrs61752115
dbSNP (classic)rs61752115
ClinGenrs61752115
ebirs61752115
HLIrs61752115
Exacrs61752115
Gnomadrs61752115
Varsomers61752115
LitVarrs61752115
Maprs61752115
PheGenIrs61752115
Biobankrs61752115
1000 genomesrs61752115
hgdprs61752115
ensemblrs61752115
geneviewrs61752115
scholarrs61752115
googlers61752115
pharmgkbrs61752115
gwascentralrs61752115
openSNPrs61752115
23andMers61752115
SNPshotrs61752115
SNPdbers61752115
MSV3drs61752115
GWAS Ctlgrs61752115
Max Magnitude0
OMIM601789
Desc
Variant0002
Relatedalso


ClinVar
Risk rs61752115(C;C)
Alt rs61752115(C;C)
Reference Rs61752115(T;T)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 11B
Variation info
Gene PEX13
CLNDBN Peroxisome biogenesis disorder 11B
Reversed 0
HGVS NC_000002.11:g.61275670T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008143.3,