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
RS1597618787 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS1597618794 CHRNE Health Risk Likely pathogenic Neurodevelopmental delay, Multifocal seizures
RS1597618854 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1597619440 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1597619719 CTNS Health Risk Pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS1597620368 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1597621216 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1597621353 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B
RS1597621396 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS1597622118 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B
RS1597623670 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597625734 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597625794 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597625799 NF1 Health Risk Pathogenic —
RS1597625887 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1597625982 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597626026 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597626031 NF1 Health Risk Pathogenic —
RS1597626094 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1597626161 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597626163 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597629649 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597629679 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597629724 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597629765 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597629809 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1597629813 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597629882 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597629884 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597629895 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1597631624 FBN1 Health Risk Pathogenic 8 conditions, 8 conditions
RS1597631662 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597631751 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597633163 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597633171 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1597633183 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597633219 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597635528 PMP22 Health Risk Likely pathogenic Hereditary liability to pressure palsies, Hereditary liability to pressure palsies
RS1597635540 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1597635592 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1597635615 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597635722 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597635740 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597635745 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597635793 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1597635825 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597635936 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597636022 NF1 Health Risk risk factor Neurofibromatosis, type 1
RS1597638300 GP1BA Health Risk Likely pathogenic Macrothrombocytopenia, Bernard-Soulier syndrome
RS1597638379 GP1BA Health Risk Pathogenic Macrothrombocytopenia, Macrothrombocytopenia
RS1597638398 GP1BA Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, GP1BA-related disorder
RS1597638598 GP1BA Health Risk Pathogenic/Likely pathogenic Thrombocytopenia, Bernard-Soulier syndrome
RS1597638681 GP1BA Health Risk Likely pathogenic Thrombocytopenia, Thrombocytopenia
RS1597638745 GP1BA Health Risk Likely pathogenic Macrothrombocytopenia, Thrombocytopenia
RS1597638753 GP1BA Health Risk Likely pathogenic Thrombocytopenia, Thrombocytopenia
RS1597639057 GP1BA Health Risk Likely pathogenic Thrombocytopenia, Thrombocytopenia
RS1597640885 GP1BA Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS1597643228 GAS8 Health Risk Likely pathogenic Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
RS1597643692 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597643722 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597643815 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1597647930 CTNS Health Risk Pathogenic/Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS1597652265 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597652471 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597653264 SLC13A5 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1597654770 CTNS Health Risk Pathogenic/Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS1597654857 CTNS;CTNS-AS1 Health Risk Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS1597657030 SLC13A5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 25
RS1597657969 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597658021 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597658192 NF1 Health Risk Pathogenic Tibial pseudarthrosis, Neurofibromatosis
RS1597658505 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597658661 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1597658664 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597658676 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597658684 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597659694 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597659721 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597659830 NF1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1597659879 NF1 Health Risk Pathogenic Tibial pseudarthrosis, Neurofibromatosis
RS1597659883 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1597659893 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597659939 NF1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1597660090 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1597660915 NF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1597660974 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597661607 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1597665063 SPG7 Health Risk Likely pathogenic Intellectual disability, Spastic ataxia
RS1597665080 SPG7 Health Risk Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1597675888 RPL13 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
RS1597675890 RPL13 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
RS1597676540 RPL13 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, Spondyloepimetaphyseal dysplasia
RS1597676610 SLC13A5 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1597676674 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS1597677742 SLC13A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 25
RS1597680816 NF1 Health Risk Pathogenic —
RS1597680909 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597680938 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597680978 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597681200 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
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