chr | position | dbsnpid | found | who (max 10) | freq | homozygous | effect | description |
chr1 | 196690107 | rs1061170 G | 27 | | 68% | | Pathogenic,_risk_factor | Basal_laminar_drusen |
chr1 | 223111858 | rs5744168 G | 1 | | 6% | | protective,_risk_factor | Legionnaire_disease,_susceptibility_to |
chr2 | 233758936 | rs3755319 G | 18 | | 52% | | Pathogenic | Lucey-Driscoll_syndrome |
chr4 | 67740682 | rs104893837 G | 0 | | 0% | | Pathogenic | Hypogonadotropic_hypogonadism_7_with_or_without_anosmia |
chr4 | 99318162 | rs1229984 G | 31 | | 94% | yes | protective | Alcohol_dependence |
chr5 | 150848436 | rs10065172 G | 1 | | 20% | | Pathogenic | Inflammatory_bowel_disease_19 |
chr6 | 6320575 | rs2815822 G | 30 | | 88% | yes | Pathogenic | Factor_XIII,_A_subunit,_deficiency_of |
chr6 | 149400554 | rs237025 G | 17 | | 57% | yes | Pathogenic | Diabetes_mellitus,_insulin-dependent,_5 |
chr7 | 128938247 | rs2004640 G | 21 | | | | Pathogenic,_risk_factor | Rheumatoid_arthritis |
chr9 | 22003368 | rs1063192 G | 24 | | 69% | yes | 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 |
chr10 | 6080046 | rs11594656 G | 13 | | 17% | | Pathogenic | Diabetes_mellitus,_insulin-dependent,_10 |
chr10 | 52771482 | rs5030737 G | 1 | | 6% | | Pathogenic | Cystic_fibrosis |
chr11 | 5249833 | rs368698783 G | 4 | | 15% | | Pathogenic | Hereditary_persistence_of_fetal_hemoglobin |
chr11 | 48123823 | rs1566734 G | 16 | | 17% | | Pathogenic | Carcinoma_of_colon |
chr16 | 27344882 | rs1805010 G | 26 | | 45% | | Pathogenic,_protective | Acquired_immunodeficiency_syndrome,_slow_progression_to |
chr16 | 56839503 | rs376379631 G | 0 | | 0% | | Pathogenic | not_provided |
chr17 | 34252769 | rs1024611 G | 11 | | 28% | | Pathogenic,_risk_factor | Spina_bifida,_susceptibility_to |
chr20 | 17975870 | rs587776944 G | 0 | | 0% | | Pathogenic | Mitochondrial_DNA_depletion_syndrome_11 |
indel: |
chr2 | 201232808 | rs3834129 G | 27 | | 48% | | protective | Lung_cancer,_protection_against |