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rs752898811

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common/normal
(-;T) 3 Carrier for a methylmalonic aciduria mutation
(T;T) 8.8 Methylmalonic aciduria (predicted)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position49453645
GeneMUT
is asnp
is mentioned by
dbSNPrs752898811
dbSNP (classic)rs752898811
ClinGenrs752898811
ebirs752898811
HLIrs752898811
Exacrs752898811
Gnomadrs752898811
Varsomers752898811
LitVarrs752898811
Maprs752898811
PheGenIrs752898811
Biobankrs752898811
1000 genomesrs752898811
hgdprs752898811
ensemblrs752898811
geneviewrs752898811
scholarrs752898811
googlers752898811
pharmgkbrs752898811
gwascentralrs752898811
openSNPrs752898811
23andMers752898811
SNPshotrs752898811
SNPdbers752898811
MSV3drs752898811
GWAS Ctlgrs752898811
Max Magnitude8.8

aka c.1022dupA, p.Asn341fs; mutation observed in Hispanics