SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1555221197 POLE Health Risk Pathogenic —
RS1555221202 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555221275 SMARCC2 Health Risk Pathogenic SMARCC2-related disorder, SMARCC2-related BAFopathy
RS1555221512 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555221894 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555221903 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555221914 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555221919 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555222073 CEP290 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1555222243 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555222342 POLE Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia
RS1555222376 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555222457 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555222526 POLE Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555222548 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555222567 POLE Health Risk Pathogenic —
RS1555222696 POLE Health Risk Pathogenic —
RS1555222708 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555222899 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555222907 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555222948 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555222973 CREB3L1 Health Risk Pathogenic Osteogenesis imperfecta type 16, Osteogenesis imperfecta
RS1555222974 POLE Health Risk Pathogenic —
RS1555223073 POLE Health Risk Pathogenic —
RS1555223081 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555223097 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555223259 TBX5 Health Risk Pathogenic Atrial septal defect, ostium secundum type
RS1555223294 TBX5 Health Risk Likely pathogenic Congenital heart disease (variable), Congenital heart disease (variable)
RS1555223390 OAS1 Health Risk Likely pathogenic Pulmonary alveolar proteinosis with hypogammaglobulinemia, Pulmonary alveolar proteinosis with hypogammaglobulinemia
RS1555223595 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1555223925 FGF9 Health Risk Pathogenic Multiple synostoses syndrome 3, Multiple synostoses syndrome 3
RS1555223943 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555223949 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555224105 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555224111 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555224124 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555224126 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555224371 SCN8A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555224772 FGD4 Health Risk Likely pathogenic —
RS1555225149 POLE Health Risk Pathogenic —
RS1555225184 POLE Health Risk Likely pathogenic —
RS1555225201 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS1555225288 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555225303 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555225319 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555225344 TBX5 Health Risk Pathogenic Aortic valve disease 2, Holt-Oram syndrome
RS1555225472 MED13L Health Risk Pathogenic —
RS1555225498 SCN8A Health Risk Likely pathogenic Autosomal recessive inheritance, Global developmental delay
RS1555225505 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS1555225532 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1555225566 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1555225636 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555225782 SCN8A Health Risk Pathogenic Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS1555225794 SCN8A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 13
RS1555225831 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1555225835 SCN8A Health Risk Likely pathogenic Cerebellar ataxia, Intellectual disability
RS1555225958 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1555225989 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1555226005 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1555226051 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555226055 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS1555226059 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555226065 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555226066 POLE Health Risk Conflicting classifications of pathogenicity —
RS1555226079 SCN8A Health Risk Pathogenic —
RS1555226081 SCN8A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555226280 SCN8A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555226301 TBX5 Health Risk Likely pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1555226305 TBX5 Health Risk Pathogenic —
RS1555226315 TBX5 Health Risk Pathogenic Atrial septal defect 1, Holt-Oram syndrome
RS1555226322 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1555226371 SCN8A Health Risk Pathogenic —
RS1555226375 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1555226395 SYT1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555226411 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555226412 TBX5 Health Risk Pathogenic —
RS1555226417 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1555226418 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555226420 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1555226430 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555226575 TBX5 Health Risk Likely pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1555226581 TBX5 Health Risk Pathogenic/Likely pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1555226584 TBX5 Health Risk Likely pathogenic —
RS1555226588 TBX5 Health Risk Pathogenic —
RS1555226823 SCN8A Health Risk Pathogenic COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA, Early-infantile DEE
RS1555226860 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS1555227097 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555227130 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555227234 POLE Health Risk Pathogenic —
RS1555227419 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555227607 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1555228198 RXYLT1 Health Risk Likely pathogenic —
RS1555228250 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555228293 POLE Health Risk Pathogenic —
RS1555228303 SCN8A Health Risk Pathogenic Early-infantile DEE, Developmental and epileptic encephalopathy
RS1555228304 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1555228329 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 13
RS1555228350 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cognitive impairment with or without cerebellar ataxia
RS1555228358 POLE Health Risk Conflicting classifications of pathogenicity POLE-related disorder, POLE-related disorder
RS1555228470 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
« Prev 1 ... 856 857 858 859 860 861 862 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →