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
RS2143664797 GNAO1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2143664808 GNAO1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2143664859 GNAO1 Health Risk Pathogenic —
RS2143664861 GNAO1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 17
RS2143664881 GNAO1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 17
RS2143665312 GNAO1 Health Risk Pathogenic Neurodevelopmental disorder with involuntary movements, Neurodevelopmental disorder with involuntary movements
RS2143669286 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2143669495 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2143670048 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2143670119 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143670560 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143670786 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143670818 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2143670891 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2143671037 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, Generalized epilepsy with febrile seizures plus
RS2143671063 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2143671466 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143671563 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143671676 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143672004 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143672014 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143672030 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143672087 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143672139 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143672195 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143672296 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143672313 MED13 Health Risk Likely pathogenic Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS2143672476 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143672609 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143672833 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143673063 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143673258 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer
RS2143673772 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143674103 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143674150 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2143676047 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2143676048 CNTNAP1 Health Risk Likely pathogenic Congenital hypomyelination neuropathy with or without arthrogryposis, Congenital hypomyelination neuropathy with or without arthrogryposis
RS2143677013 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143677258 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS2143677288 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2143677351 STX1B Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2143677612 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2143677618 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2143677745 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2143678134 MED13 Health Risk Likely pathogenic —
RS2143678941 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143679153 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2143679565 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2143679715 PIEZO2 Health Risk Likely pathogenic —
RS2143680554 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143680611 JUP Health Risk Pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS2143682648 PLCG2 Health Risk Likely pathogenic Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
RS2143683612 JUP Health Risk Pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS2143687619 MED13 Health Risk Pathogenic Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS2143688328 PSMD12 Health Risk Pathogenic Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome
RS2143692659 ELAC2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS2143697976 JUP Health Risk Pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS2143699590 GNAO1 Health Risk Pathogenic —
RS2143699618 GNAO1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy
RS2143699686 GNAO1 Health Risk Pathogenic Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy
RS2143699701 GNAO1 Health Risk Likely pathogenic Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy
RS2143699753 GNAO1 Health Risk Likely pathogenic Neurodevelopmental disorder with involuntary movements, Neurodevelopmental disorder with involuntary movements
RS2143704776 GNAO1 Health Risk Conflicting classifications of pathogenicity Seizure, Seizure
RS2143705016 GNAO1 Health Risk Pathogenic Inborn genetic diseases, Early-infantile DEE
RS2143705059 GNAO1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with involuntary movements, Early-infantile DEE
RS2143705605 PLCG2 Health Risk Likely pathogenic Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
RS2143706752 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2143707089 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143707235 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143707493 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2143707605 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143707713 NF1 Health Risk Pathogenic —
RS2143707737 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143707749 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143707759 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2143708010 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143708173 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2143710613 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143711335 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2143711627 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2143711687 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143717943 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS2143719799 PPM1D Health Risk Likely pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS2143719857 PPM1D Health Risk Likely pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS2143720302 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2143721294 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2143723668 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2143724113 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143724329 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143724700 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2143724764 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2143724912 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2143725868 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS2143726485 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Breast-ovarian cancer
RS2143727680 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Breast-ovarian cancer
RS2143729488 SMCHD1 Health Risk Likely pathogenic —
RS2143730785 PPM1D Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2143730896 PPM1D Health Risk Likely pathogenic —
RS2143731129 PPM1D Health Risk Pathogenic Autosomal dominant non-syndromic intellectual disability, Autosomal dominant non-syndromic intellectual disability
RS2143731708 TBX2 Health Risk Conflicting classifications of pathogenicity Vertebral anomalies and variable endocrine and T-cell dysfunction, TBX2-related disorder
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