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rs786205138

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205138(A;G)
Make rs786205138(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position72294047
GeneCLPB
is asnp
is mentioned by
dbSNPrs786205138
ebirs786205138
HLIrs786205138
Exacrs786205138
Varsomers786205138
Maprs786205138
PheGenIrs786205138
hapmaprs786205138
1000 genomesrs786205138
hgdprs786205138
ensemblrs786205138
gopubmedrs786205138
geneviewrs786205138
scholarrs786205138
googlers786205138
pharmgkbrs786205138
gwascentralrs786205138
openSNPrs786205138
23andMers786205138
23andMe allrs786205138
SNP Nexus

SNPshotrs786205138
SNPdbers786205138
MSV3drs786205138
GWAS Ctlgrs786205138
Max Magnitude0
ClinVar
Risk rs786205138(G;G)
Alt rs786205138(G;G)
Reference rs786205138(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.72005091T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000167541.4,