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 | 233758936 | rs3755319 G | 18 | | 52% | | Pathogenic | Lucey-Driscoll_syndrome |
chr3 | 46373205 | rs1800560 G | 1 | | 0% | | protective | Human_immunodeficiency_virus_type_1,_susceptibility_to |
chr4 | 99318162 | rs1229984 G | 31 | | 94% | yes | protective | Alcohol_dependence |
chr6 | 6320575 | rs2815822 G | 30 | | 88% | yes | Pathogenic | Factor_XIII,_A_subunit,_deficiency_of |
chr9 | 22003368 | rs1063192 G | 24 | | 69% | yes | protective | Three_Vessel_Coronary_Disease |
chr9 | 22072302 | rs9632884 G | 16 | | 61% | yes | protective | Three_Vessel_Coronary_Disease |
chr9 | 22103814 | rs1333042 G | 16 | | 61% | yes | protective | Three_Vessel_Coronary_Disease |
chr9 | 131521445 | rs794727208 G | 1 | | 0% | | Pathogenic | Walker-Warburg_congenital_muscular_dystrophy |
chr11 | 48123823 | rs1566734 G | 16 | | 17% | | Pathogenic | Carcinoma_of_colon |
chr11 | 126292948 | rs8177374 G | 8 | | 13% | | protective | Bacteremia,_resistance_to |
chr16 | 23619986 | rs369444 G | 7 | | 8% | | Pathogenic | Familial_cancer_of_breast |
chr16 | 27344882 | rs1805010 G | 26 | | 45% | | Pathogenic,_protective | Acquired_immunodeficiency_syndrome,_slow_progression_to |
chr16 | 27362859 | rs1805015 G | 5 | | 22% | | protective | Atopy,_resistance_to |
chr22 | 36875833 | rs201021542 G | 1 | | 0% | | Pathogenic | Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_III |
indel: |
chr2 | 201232808 | rs3834129 G | 27 | | 48% | | protective | Lung_cancer,_protection_against |
chr17 | 30237266 | rs774676466 G | 10 | | 22% | | Pathogenic | Serotonin_transporter_activity,_increased/decreased |
chr19 | 7267643 | | 1 | | 0% | | Pathogenic | not_provided |