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rs748010262

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs748010262(G;T)
Make rs748010262(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position72294125
GeneCLPB
is asnp
is mentioned by
dbSNPrs748010262
ebirs748010262
HLIrs748010262
Exacrs748010262
Varsomers748010262
Maprs748010262
PheGenIrs748010262
hapmaprs748010262
1000 genomesrs748010262
hgdprs748010262
ensemblrs748010262
gopubmedrs748010262
geneviewrs748010262
scholarrs748010262
googlers748010262
pharmgkbrs748010262
gwascentralrs748010262
openSNPrs748010262
23andMers748010262
23andMe allrs748010262
SNP Nexus

SNPshotrs748010262
SNPdbers748010262
MSV3drs748010262
GWAS Ctlgrs748010262
Max Magnitude0
ClinVar
Risk rs748010262(A,T;A,T)
Alt rs748010262(A,T;A,T)
Reference rs748010262(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 0
HGVS NC_000011.9:g.72005169G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000167539.4,