| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| MASP2 | 605102 | MASP2 DEFICIENCY | MASP2, ASP105GLY | rs72550870 | 1 | 11046609 | T | C | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_1000G;E_Cited;E_ESP;CLIN_pathogenic;MA=C;MAF=0.0174472;MAC=38;AA=T |
