chr | position | dbsnpid | found | who (max 10) | freq | homozygous | effect | description |
chr1 | 198898549 | rs60639710 G | 21 | | 72% | | Pathogenic | Acute_myeloid_leukemia_with_maturation |
chr1 | 198898955 | rs10800597 G | 21 | | 72% | | Pathogenic | Acute_myeloid_leukemia_with_maturation |
chr1 | 198900385 | rs10800598 G | 22 | | 74% | | Pathogenic | Acute_myeloid_leukemia_with_maturation |
chr2 | 233758936 | rs3755319 G | 18 | | 52% | | Pathogenic | Lucey-Driscoll_syndrome |
chr3 | 124055231 | rs9289231 G | 3 | | 14% | | Pathogenic | Coronary_heart_disease_5 |
chr4 | 38797027 | rs5743618 G | 9 | | 54% | | protective | Leprosy,_protection_against |
chr4 | 99318162 | rs1229984 G | 31 | | 94% | | protective | Alcohol_dependence |
chr6 | 6320575 | rs2815822 G | 30 | | 88% | | Pathogenic | Factor_XIII,_A_subunit,_deficiency_of |
chr7 | 128938247 | rs2004640 G | 21 | | | yes | Pathogenic,_risk_factor | Rheumatoid_arthritis |
chr10 | 52771482 | rs5030737 G | 1 | | 6% | | Pathogenic | Cystic_fibrosis |
chr16 | 27344882 | rs1805010 G | 26 | | 45% | | Pathogenic,_protective | Acquired_immunodeficiency_syndrome,_slow_progression_to |
chr16 | 27362859 | rs1805015 G | 5 | | 22% | | protective | Atopy,_resistance_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 |
indel: |
chr2 | 201232808 | rs3834129 G | 27 | | 48% | | protective | Lung_cancer,_protection_against |