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 |
chr1 | 198898549 | rs60639710 G | 21 | | 72% | | Pathogenic | Acute_myeloid_leukemia_with_maturation |
chr1 | 198898955 | rs10800597 G | 21 | | 72% | | Pathogenic | Acute_myeloid_leukemia_with_maturation |
chr1 | 198900385 | rs10800598 G | 22 | | 74% | | Pathogenic | Acute_myeloid_leukemia_with_maturation |
chr2 | 62904596 | rs721048 G | 7 | | 12% | | Pathogenic | Prostate_cancer,_hereditary,_12 |
chr3 | 165830741 | rs1799807 G | 2 | | 1% | | Pathogenic/Likely_pathogenic | Deficiency_of_butyrylcholine_esterase |
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 | 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 |
chr9 | 22003368 | rs1063192 G | 24 | | 69% | | protective | Three_Vessel_Coronary_Disease |
chr9 | 22072302 | rs9632884 G | 16 | | 61% | | protective | Three_Vessel_Coronary_Disease |
chr9 | 22103814 | rs1333042 G | 16 | | 61% | | protective | Three_Vessel_Coronary_Disease |
chr9 | 108899816 | rs111033171 G | 2 | | 0% | | Pathogenic | Familial_dysautonomia |
chr10 | 6485181 | rs2236379 G | 7 | | 31% | | Pathogenic | Inflammatory_bowel_disease_1 |
chr11 | 126292948 | rs8177374 G | 8 | | 13% | | protective | Bacteremia,_resistance_to |
chr16 | 27344882 | rs1805010 G | 26 | | 45% | yes | Pathogenic,_protective | Acquired_immunodeficiency_syndrome,_slow_progression_to |
indel: |
chr1 | 42927114 | | 2 | | 0% | | Pathogenic | History_of_neurodevelopmental_disorder |
chr2 | 201232808 | rs3834129 G | 27 | | 48% | yes | protective | Lung_cancer,_protection_against |
chr10 | 99397621 | rs749913156 G | 2 | | 0% | | Pathogenic | Aspartate_aminotransferase,_serum_level_of,_quantitative_trait_locus_1 |