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rs144078282

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs144078282(C;C)
Make rs144078282(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position72302339
GeneCLPB, LOC105369375
is asnp
is mentioned by
dbSNPrs144078282
ebirs144078282
HLIrs144078282
Exacrs144078282
Varsomers144078282
Maprs144078282
PheGenIrs144078282
hapmaprs144078282
1000 genomesrs144078282
hgdprs144078282
ensemblrs144078282
gopubmedrs144078282
geneviewrs144078282
scholarrs144078282
googlers144078282
pharmgkbrs144078282
gwascentralrs144078282
openSNPrs144078282
23andMers144078282
23andMe allrs144078282
SNP Nexus

SNPshotrs144078282
SNPdbers144078282
MSV3drs144078282
GWAS Ctlgrs144078282
Max Magnitude0
ClinVar
Risk rs144078282(A,C;A,C)
Alt rs144078282(A,C;A,C)
Reference rs144078282(T;T)
Significance Pathogenic
Disease 3-methylglutaconic aciduria with cataracts
Variation info
Gene CLPB
CLNDBN 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
Reversed 0
HGVS NC_000011.9:g.72013383T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000167542.5,