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rs786205137

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205137(A;A)
Make rs786205137(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position72302328
GeneCLPB, LOC105369375
is asnp
is mentioned by
dbSNPrs786205137
ebirs786205137
HLIrs786205137
Exacrs786205137
Varsomers786205137
Maprs786205137
PheGenIrs786205137
hapmaprs786205137
1000 genomesrs786205137
hgdprs786205137
ensemblrs786205137
gopubmedrs786205137
geneviewrs786205137
scholarrs786205137
googlers786205137
pharmgkbrs786205137
gwascentralrs786205137
openSNPrs786205137
23andMers786205137
23andMe allrs786205137
SNP Nexus

SNPshotrs786205137
SNPdbers786205137
MSV3drs786205137
GWAS Ctlgrs786205137
Max Magnitude0
ClinVar
Risk rs786205137(A;A)
Alt rs786205137(A;A)
Reference rs786205137(G;G)
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.72013372C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000167540.4,