Have questions? Visit https://www.reddit.com/r/SNPedia

rs200032855

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200032855(A;A)
Make rs200032855(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position72358942
GeneCLPB
is asnp
is mentioned by
dbSNPrs200032855
ebirs200032855
HLIrs200032855
Exacrs200032855
Varsomers200032855
Maprs200032855
PheGenIrs200032855
hapmaprs200032855
1000 genomesrs200032855
hgdprs200032855
ensemblrs200032855
gopubmedrs200032855
geneviewrs200032855
scholarrs200032855
googlers200032855
pharmgkbrs200032855
gwascentralrs200032855
openSNPrs200032855
23andMers200032855
23andMe allrs200032855
SNP Nexus

SNPshotrs200032855
SNPdbers200032855
MSV3drs200032855
GWAS Ctlgrs200032855
Max Magnitude0
ClinVar
Risk rs200032855(A;A)
Alt rs200032855(A;A)
Reference rs200032855(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.72069986G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000167544.3,