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 |
chr2 | 233758936 | rs3755319 G | 18 | | 52% | | Pathogenic | Lucey-Driscoll_syndrome |
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 | 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 |
chr9 | 22003368 | rs1063192 G | 24 | | 69% | yes | protective | Three_Vessel_Coronary_Disease |
chr10 | 6485181 | rs2236379 G | 7 | | 31% | | Pathogenic | Inflammatory_bowel_disease_1 |
chr10 | 52771475 | rs1800450 G | 2 | | 14% | | Pathogenic | Mannose-binding_protein_deficiency |
chr11 | 5249833 | rs368698783 G | 4 | | 15% | yes | Pathogenic | Hereditary_persistence_of_fetal_hemoglobin |
chr16 | 27344882 | rs1805010 G | 26 | | 45% | | Pathogenic,_protective | Acquired_immunodeficiency_syndrome,_slow_progression_to |
chr17 | 34252769 | rs1024611 G | 11 | | 28% | | Pathogenic,_risk_factor | Spina_bifida,_susceptibility_to |
chr17 | 58281401 | rs2333227 G | 12 | | 23% | | protective,_risk_factor | Alzheimer_disease,_susceptibility_to |
chrX | 106034370 | rs1804495 G | 6 | | 14% | yes | Pathogenic | Thyroxine-binding_globulin,_variant_P |
indel: |
chr2 | 201232808 | rs3834129 G | 27 | | 48% | | protective | Lung_cancer,_protection_against |
chr4 | 70606648 | rs752402310 G | 0 | | 0% | | Pathogenic | Amelogenesis_imperfecta,_type_IF |
chr17 | 30237266 | rs774676466 G | 10 | | 22% | yes | Pathogenic | Serotonin_transporter_activity,_increased/decreased |
chr19 | 45353295 | rs587778271 G | 2 | | 0% | | Pathogenic/Likely_pathogenic | Metachromatic_leukodystrophy_variant |