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rs752866643

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs752866643(A;A)
Make rs752866643(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position109561076
GeneMMAB
is asnp
is mentioned by
dbSNPrs752866643
dbSNP (classic)rs752866643
ClinGenrs752866643
ebirs752866643
HLIrs752866643
Exacrs752866643
Gnomadrs752866643
Varsomers752866643
LitVarrs752866643
Maprs752866643
PheGenIrs752866643
Biobankrs752866643
1000 genomesrs752866643
hgdprs752866643
ensemblrs752866643
geneviewrs752866643
scholarrs752866643
googlers752866643
pharmgkbrs752866643
gwascentralrs752866643
openSNPrs752866643
23andMers752866643
SNPshotrs752866643
SNPdbers752866643
MSV3drs752866643
GWAS Ctlgrs752866643
Max Magnitude0
ClinVar
Risk rs752866643(A;A)
Alt rs752866643(A;A)
Reference Rs752866643(T;T)
Significance Pathogenic
Disease Methylmalonic aciduria cblB type
Variation info
Gene MMAB
CLNDBN Methylmalonic aciduria cblB type
Reversed 0
HGVS NC_000012.11:g.109998881T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000202581.2,