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rs876657402

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs876657402(-;-)
Make rs876657402(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position72294410
GeneCLPB
is asnp
is mentioned by
dbSNPrs876657402
ebirs876657402
HLIrs876657402
Exacrs876657402
Varsomers876657402
Maprs876657402
PheGenIrs876657402
hapmaprs876657402
1000 genomesrs876657402
hgdprs876657402
ensemblrs876657402
gopubmedrs876657402
geneviewrs876657402
scholarrs876657402
googlers876657402
pharmgkbrs876657402
gwascentralrs876657402
openSNPrs876657402
23andMers876657402
23andMe allrs876657402
SNP Nexus

SNPshotrs876657402
SNPdbers876657402
MSV3drs876657402
GWAS Ctlgrs876657402
Max Magnitude0
ClinVar
Risk rs876657402(;)
Alt rs876657402(;)
Reference rs876657402(T;T)
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.72005454delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000173020.3,