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 |
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 |
chr1 | 215728232 | rs111033364 G | 0 | | 0% | | Pathogenic | Hearing_impairment |
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 |
chr5 | 170383792 | rs11739136 G | 13 | | 10% | | protective | Hypertension,_diastolic,_resistance_to |
chr5 | 178211964 | rs142181517 G | 1 | | 0% | | Pathogenic | Phosphohydroxylysinuria |
chr6 | 6320575 | rs2815822 G | 30 | | 88% | yes | Pathogenic | Factor_XIII,_A_subunit,_deficiency_of |
chr9 | 22003368 | rs1063192 G | 24 | | 69% | | 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 |
chr9 | 131521445 | rs794727208 G | 1 | | 0% | | Pathogenic | Walker-Warburg_congenital_muscular_dystrophy |
chr11 | 116820918 | rs5110 G | 5 | | 5% | | Pathogenic | APOLIPOPROTEIN_A-IV_POLYMORPHISM,_APOA4*1/APOA4*2 |
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 |
chr17 | 8173452 | rs117595965 G | 0 | | 1% | | Pathogenic | Leukoencephalopathy,_brain_calcifications,_and_cysts |
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% | yes | Pathogenic | Serotonin_transporter_activity,_increased/decreased |
chr19 | 7267643 | | 1 | | 0% | | Pathogenic | not_provided |