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rs150343959

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs150343959(A;A)
Make rs150343959(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position72293609
GeneCLPB
is asnp
is mentioned by
dbSNPrs150343959
dbSNP (classic)rs150343959
ClinGenrs150343959
ebirs150343959
HLIrs150343959
Exacrs150343959
Gnomadrs150343959
Varsomers150343959
LitVarrs150343959
Maprs150343959
PheGenIrs150343959
Biobankrs150343959
1000 genomesrs150343959
hgdprs150343959
ensemblrs150343959
geneviewrs150343959
scholarrs150343959
googlers150343959
pharmgkbrs150343959
gwascentralrs150343959
openSNPrs150343959
23andMers150343959
23andMe allrs150343959
SNPshotrs150343959
SNPdbers150343959
MSV3drs150343959
GWAS Ctlgrs150343959
Max Magnitude0
ClinVar
Risk rs150343959(A;A)
Alt rs150343959(A;A)
Reference Rs150343959(G;G)
Significance Pathogenic
Disease 3-methylglutaconic aciduria with cataracts not specified
Variation info
Gene CLPB
CLNDBN 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia not specified
Reversed 0
HGVS NC_000011.9:g.72004653G>A
CLNSRC
CLNACC RCV000258954.1, RCV000316112.1,