| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| ATM | 607585 | BREAST CANCER, SUSCEPTIBILITY TO | ATM, SER49CYS | rs1800054 | 11 | 108227849 | C | G | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Freq;E_1000G;E_Cited;E_ESP;CLIN_risk_factor;MA=G;MAF=0.00550964;MAC=12;AA=C |
| PALB2 | 610355 | BREAST CANCER, SUSCEPTIBILITY TO | PALB2, 1-BP DEL, 1592T | rs180177102 | 16 | 23634953 | CA | C | dbSNP_138;TSA=deletion;E_Cited;CLIN_pathogenic;CLIN_risk_factor;AA=A |
