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rs200203460

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200203460(A;A)
Make rs200203460(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position72302312
GeneCLPB, LOC105369375
is asnp
is mentioned by
dbSNPrs200203460
ClinGenrs200203460
ebirs200203460
HLIrs200203460
Exacrs200203460
Varsomers200203460
Maprs200203460
PheGenIrs200203460
hapmaprs200203460
1000 genomesrs200203460
hgdprs200203460
ensemblrs200203460
gopubmedrs200203460
geneviewrs200203460
scholarrs200203460
googlers200203460
pharmgkbrs200203460
gwascentralrs200203460
openSNPrs200203460
23andMers200203460
23andMe allrs200203460
SNP Nexus

SNPshotrs200203460
SNPdbers200203460
MSV3drs200203460
GWAS Ctlgrs200203460
Max Magnitude0
ClinVar
Risk rs200203460(A;A) rs200203460(T;T)
Alt rs200203460(A;A) rs200203460(T;T)
Reference Rs200203460(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.72013356G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000167543.5,