chr | position | dbsnpid | found | who (max 10) | freq | homozygous | effect | description |
chr1 | 196690107 | rs1061170 G | 27 | | 68% | yes | Pathogenic,_risk_factor | Basal_laminar_drusen |
chr1 | 198807802 | rs9660525 G | 13 | | 38% | | Pathogenic | Acute_myeloid_leukemia_with_maturation |
chr1 | 198826991 | rs12406470 G | 17 | | 49% | | Pathogenic | Acute_myeloid_leukemia_with_maturation |
chr2 | 233758936 | rs3755319 G | 18 | | 52% | | Pathogenic | Lucey-Driscoll_syndrome |
chr3 | 124055231 | rs9289231 G | 3 | | 14% | | Pathogenic | Coronary_heart_disease_5 |
chr4 | 38797027 | rs5743618 G | 9 | | 54% | | protective | Leprosy,_protection_against |
chr4 | 99318162 | rs1229984 G | 31 | | 94% | yes | protective | Alcohol_dependence |
chr6 | 6320575 | rs2815822 G | 30 | | 88% | | Pathogenic | Factor_XIII,_A_subunit,_deficiency_of |
chr6 | 31943161 | rs547154 G | 3 | | 11% | | protective | Age-related_macular_degeneration_14 |
chr6 | 149400554 | rs237025 G | 17 | | 57% | | Pathogenic | Diabetes_mellitus,_insulin-dependent,_5 |
chr7 | 128938247 | rs2004640 G | 21 | | | yes | Pathogenic,_risk_factor | Rheumatoid_arthritis |
chr11 | 48123823 | rs1566734 G | 16 | | 17% | yes | Pathogenic | Carcinoma_of_colon |
chr16 | 23619986 | rs369444 G | 7 | | 8% | | Pathogenic | Familial_cancer_of_breast |
chr17 | 34252769 | rs1024611 G | 11 | | 28% | | Pathogenic,_risk_factor | Spina_bifida,_susceptibility_to |
indel: |
chr2 | 201232808 | rs3834129 G | 27 | | 48% | | protective | Lung_cancer,_protection_against |
chr11 | 31789912 | rs760883786 G | 0 | | 1% | | Pathogenic | Coloboma_of_optic_nerve_(disease) |