chr | position | dbsnpid | found | who (max 10) | freq | homozygous | effect | description |
chr1 | 198826991 | rs12406470 G | 17 | | 49% | | Pathogenic | Acute_myeloid_leukemia_with_maturation |
chr1 | 198898549 | rs60639710 G | 21 | | 72% | yes | Pathogenic | Acute_myeloid_leukemia_with_maturation |
chr1 | 198898955 | rs10800597 G | 21 | | 72% | yes | Pathogenic | Acute_myeloid_leukemia_with_maturation |
chr1 | 198900385 | rs10800598 G | 22 | | 74% | yes | Pathogenic | Acute_myeloid_leukemia_with_maturation |
chr2 | 233758936 | rs3755319 G | 18 | | 52% | | Pathogenic | Lucey-Driscoll_syndrome |
chr4 | 38797027 | rs5743618 G | 9 | | 54% | | protective | Leprosy,_protection_against |
chr4 | 99318162 | rs1229984 G | 31 | | 94% | yes | protective | Alcohol_dependence |
chr4 | 99339632 | rs698 G | 17 | | 35% | | protective | Alcohol_dependence |
chr4 | 99342808 | rs1693482 G | 17 | | 34% | | protective | Alcohol_dependence |
chr6 | 6320575 | rs2815822 G | 30 | | 88% | yes | Pathogenic | Factor_XIII,_A_subunit,_deficiency_of |
chr6 | 149400554 | rs237025 G | 17 | | 57% | yes | Pathogenic | Diabetes_mellitus,_insulin-dependent,_5 |
chr9 | 22003368 | rs1063192 G | 24 | | 69% | | protective | Three_Vessel_Coronary_Disease |
chr11 | 5249833 | rs368698783 G | 4 | | 15% | yes | Pathogenic | Hereditary_persistence_of_fetal_hemoglobin |
indel: |
chr2 | 201232808 | rs3834129 G | 27 | | 48% | | protective | Lung_cancer,_protection_against |