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% | yes | Pathogenic | Lucey-Driscoll_syndrome |
chr3 | 46357717 | rs1799864 G | 7 | | 13% | | protective | Human_immunodeficiency_virus_type_1,_susceptibility_to |
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% | yes | 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 |
chr10 | 6080046 | rs11594656 G | 13 | | 17% | | Pathogenic | Diabetes_mellitus,_insulin-dependent,_10 |
chr11 | 48123823 | rs1566734 G | 16 | | 17% | | Pathogenic | Carcinoma_of_colon |
chr11 | 116820918 | rs5110 G | 5 | | 5% | | Pathogenic | APOLIPOPROTEIN_A-IV_POLYMORPHISM,_APOA4*1/APOA4*2 |
chr12 | 120739356 | rs28940872 G | 2 | | 0% | | Pathogenic/Likely_pathogenic | Deficiency_of_butyryl-CoA_dehydrogenase |
chr16 | 23619986 | rs369444 G | 7 | | 8% | | Pathogenic | Familial_cancer_of_breast |
indel: |
chr2 | 201232808 | rs3834129 G | 27 | | 48% | | protective | Lung_cancer,_protection_against |