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rs61752117

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61752117(C;T)
Make rs61752117(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position45914619
GenePEX16
is asnp
is mentioned by
dbSNPrs61752117
dbSNP (classic)rs61752117
ClinGenrs61752117
ebirs61752117
HLIrs61752117
Exacrs61752117
Gnomadrs61752117
Varsomers61752117
LitVarrs61752117
Maprs61752117
PheGenIrs61752117
Biobankrs61752117
1000 genomesrs61752117
hgdprs61752117
ensemblrs61752117
geneviewrs61752117
scholarrs61752117
googlers61752117
pharmgkbrs61752117
gwascentralrs61752117
openSNPrs61752117
23andMers61752117
SNPshotrs61752117
SNPdbers61752117
MSV3drs61752117
GWAS Ctlgrs61752117
Max Magnitude0
OMIM603360
Desc
Variant0001
Relatedalso


ClinVar
Risk rs61752117(T;T)
Alt rs61752117(T;T)
Reference Rs61752117(C;C)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 8A not provided
Variation info
Gene PEX16
CLNDBN Peroxisome biogenesis disorder 8A not provided
Reversed 1
HGVS NC_000011.9:g.45936170G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006837.2, RCV000431832.1,