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
RS1598192095 SUZ12 Health Risk Pathogenic Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
RS1598209965 ALOXE3 Health Risk Pathogenic —
RS1598211251 KCNJ2 Health Risk Likely pathogenic —
RS1598211614 KCNJ2 Health Risk Pathogenic Andersen Tawil syndrome, Andersen Tawil syndrome
RS1598211633 PRCD Health Risk Likely pathogenic —
RS1598211790 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS1598223933 CLTC Health Risk Pathogenic —
RS1598225571 CLTC Health Risk Likely pathogenic —
RS1598226304 CLTC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 56
RS1598233581 CLTC Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 56
RS1598239171 GCGR Health Risk Pathogenic GCGR-related hyperglucagonemia, GCGR-related hyperglucagonemia
RS1598241401 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1598241437 CLTC Health Risk Likely pathogenic —
RS1598265248 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1598265282 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Abnormality of the musculature
RS1598265382 VAMP2 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
RS1598265384 VAMP2 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
RS1598265387 VAMP2 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
RS1598265438 VAMP2 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
RS1598265441 VAMP2 Health Risk Pathogenic Severe neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
RS1598266203 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1598270831 SGCA Health Risk Conflicting classifications of pathogenicity Sarcoglycanopathy, Sarcoglycanopathy
RS1598277713 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1598278059 DNAI2 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1598279469 SCAPER Health Risk Likely pathogenic Intellectual developmental disorder and retinitis pigmentosa, IDDRP
RS1598284183 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae
RS1598285068 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598285120 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598285125 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598286050 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598286543 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS1598288002 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598288070 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598288342 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598288593 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1598288634 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1598288648 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, COL1A1-related disorder
RS1598288656 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1598288967 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598289247 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598289365 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598289920 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598290382 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS1598291438 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598292524 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598293348 DNAI2 Health Risk Likely pathogenic Primary ciliary dyskinesia 9, Primary ciliary dyskinesia 9
RS1598293646 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS1598293710 COL1A1 Health Risk Likely pathogenic —
RS1598293920 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1598295066 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598295482 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598295506 COL1A1 Health Risk Pathogenic —
RS1598295794 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1598296202 COL1A1 Health Risk Likely pathogenic —
RS1598296825 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598297227 COL1A1 Health Risk Likely pathogenic Abnormal bleeding, Abnormal bleeding
RS1598297666 COL1A1 Health Risk Likely pathogenic —
RS1598297682 COL1A1 Health Risk Likely pathogenic —
RS1598298292 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598298449 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598298699 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598299070 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598299275 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type III
RS1598299485 SLC4A1 Health Risk Pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS1598299754 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598300054 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1598300304 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598301457 SLC4A1 Health Risk Pathogenic/Likely pathogenic —
RS1598301459 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598301619 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598302037 SLC4A1 Health Risk Pathogenic —
RS1598302040 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1598328279 LAMA1 Health Risk Pathogenic —
RS1598330492 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1598342751 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1598348312 DNAI2 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1598354372 PYCR1 Health Risk Pathogenic Autosomal recessive cutis laxa type 2B, Autosomal recessive cutis laxa type 2B
RS1598358440 PYCR1 Health Risk Pathogenic Autosomal recessive cutis laxa type 2B, Autosomal recessive cutis laxa type 2B
RS1598358449 PYCR1 Health Risk Pathogenic Autosomal recessive cutis laxa type 2B, Autosomal recessive cutis laxa type 2B
RS1598362746 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1598363083 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS1598363490 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1598364296 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1598364358 GRN Health Risk Likely pathogenic —
RS1598364782 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1598364961 GRN Health Risk Pathogenic/Likely pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS1598367619 NDUFAF8 Health Risk Pathogenic Mitochondrial disease, Mitochondrial complex I deficiency
RS1598368033 NDUFAF8 Health Risk Likely pathogenic Mitochondrial disease, Mitochondrial complex I deficiency
RS1598372791 FOXJ1 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1598372830 FOXJ1 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1598372841 FOXJ1 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1598372878 FOXJ1 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1598375579 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1598375731 RPGRIP1L Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1598375779 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1598377051 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1598377980 ITGA2B Health Risk Pathogenic Macrothrombocytopenia, Glanzmann thrombasthenia
RS1598378490 ITGA2B Health Risk Likely pathogenic Abnormal platelet aggregation, Glanzmann thrombasthenia
RS1598380253 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS1598380380 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
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