Gene: PMM2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs190521996
rs190521996
PMM2
C 0.700 CausalMutation CLINVAR

dbSNP: rs80338701
rs80338701
PMM2
A 0.700 CausalMutation CLINVAR

dbSNP: rs780581250
rs780581250
PMM2
0.010 GeneticVariation BEFREE However, patients carrying the mutation 548T-->C had less severe disease, e.g., no pericardial effusions, malnutrition, or clinical coagulation disturbances. 11409861

2001