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rs786205139

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205139(A;T)
Make rs786205139(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position72329709
GeneCLPB
is asnp
is mentioned by
dbSNPrs786205139
ebirs786205139
HLIrs786205139
Exacrs786205139
Varsomers786205139
Maprs786205139
PheGenIrs786205139
hapmaprs786205139
1000 genomesrs786205139
hgdprs786205139
ensemblrs786205139
gopubmedrs786205139
geneviewrs786205139
scholarrs786205139
googlers786205139
pharmgkbrs786205139
gwascentralrs786205139
openSNPrs786205139
23andMers786205139
23andMe allrs786205139
SNP Nexus

SNPshotrs786205139
SNPdbers786205139
MSV3drs786205139
GWAS Ctlgrs786205139
Max Magnitude0
ClinVar
Risk rs786205139(T;T)
Alt rs786205139(T;T)
Reference rs786205139(A;A)
Significance Pathogenic
Disease 3-methylglutaconic aciduria with cataracts
Variation info
Gene CLPB
CLNDBN 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
Reversed 1
HGVS NC_000011.9:g.72040753T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000167545.4,