chr | position | dbsnpid | found | who (max 10) | freq | homozygous | effect | description |
chr1 | 196690107 | rs1061170 G | 27 | | 68% | yes | Pathogenic,_risk_factor | Basal_laminar_drusen |
chr2 | 62904596 | rs721048 G | 7 | | 12% | yes | Pathogenic | Prostate_cancer,_hereditary,_12 |
chr3 | 46357717 | rs1799864 G | 7 | | 13% | | protective | Human_immunodeficiency_virus_type_1,_susceptibility_to |
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 |
chr5 | 170383792 | rs11739136 G | 13 | | 10% | | protective | Hypertension,_diastolic,_resistance_to |
chr6 | 6320575 | rs2815822 G | 30 | | 88% | yes | Pathogenic | Factor_XIII,_A_subunit,_deficiency_of |
chr7 | 128938247 | rs2004640 G | 21 | | | | Pathogenic,_risk_factor | Rheumatoid_arthritis |
chr9 | 108899816 | rs111033171 G | 2 | | 0% | | Pathogenic | Familial_dysautonomia |
chr11 | 48123823 | rs1566734 G | 16 | | 17% | | Pathogenic | Carcinoma_of_colon |
chr16 | 27344882 | rs1805010 G | 26 | | 45% | yes | Pathogenic,_protective | Acquired_immunodeficiency_syndrome,_slow_progression_to |
chr16 | 67483042 | rs5030980 G | 4 | | 3% | | Pathogenic,_association | Leanness,_inherited |
chr17 | 58281401 | rs2333227 G | 12 | | 23% | | protective,_risk_factor | Alzheimer_disease,_susceptibility_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 |