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rs759500860

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs759500860(A;A)
Make rs759500860(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position72293554
GeneCLPB
is asnp
is mentioned by
dbSNPrs759500860
ebirs759500860
HLIrs759500860
Exacrs759500860
Varsomers759500860
Maprs759500860
PheGenIrs759500860
hapmaprs759500860
1000 genomesrs759500860
hgdprs759500860
ensemblrs759500860
gopubmedrs759500860
geneviewrs759500860
scholarrs759500860
googlers759500860
pharmgkbrs759500860
gwascentralrs759500860
openSNPrs759500860
23andMers759500860
23andMe allrs759500860
SNP Nexus

SNPshotrs759500860
SNPdbers759500860
MSV3drs759500860
GWAS Ctlgrs759500860
Max Magnitude0
ClinVar
Risk rs759500860(A;A)
Alt rs759500860(A;A)
Reference rs759500860(C;C)
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.72004598C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000167538.4,