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
RS2113309064 GABRG2 Health Risk Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2113309482 GABRG2 Health Risk Likely pathogenic Sudden unexplained death in childhood, Sudden unexplained death in childhood
RS2113311300 SH3PXD2B Health Risk Likely pathogenic Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS2113324886 GABRG2 Health Risk Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2113325423 GABRG2 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS2113326012 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2113326773 GRM6 Health Risk Pathogenic —
RS2113326854 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2113326934 GRM6 Health Risk Pathogenic —
RS2113336038 GRM6 Health Risk Pathogenic —
RS2113349880 GLRA1 Health Risk Pathogenic Hyperekplexia 1, Hyperekplexia 1
RS2113354062 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS2113355272 DOCK2 Health Risk Pathogenic DOCK2 deficiency, DOCK2 deficiency
RS2113359152 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS2113369038 SGCD Health Risk Likely pathogenic —
RS2113370272 GABRG2 Health Risk Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2113371247 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2113374735 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2113380903 GABRA1 Health Risk Pathogenic Epilepsy, idiopathic generalized
RS2113381632 GABRA1 Health Risk Conflicting classifications of pathogenicity —
RS2113381723 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS2113389254 GABRA1 Health Risk Pathogenic Epilepsy, idiopathic generalized
RS2113389287 SGCD Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2113389536 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS2113397640 GABRB2 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2113397784 GABRB2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2113397917 GABRB2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2113405030 GABRB2 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2113408096 GABRB2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2113408165 GABRB2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92
RS2113446442 GABRA1 Health Risk Pathogenic Idiopathic generalized epilepsy, Epilepsy
RS2113446665 GABRA1 Health Risk Pathogenic Epilepsy, idiopathic generalized
RS2113452099 GEMIN5 Health Risk Pathogenic Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
RS2113459584 GEMIN5 Health Risk Pathogenic Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
RS2113464322 GABRA1 Health Risk Pathogenic Idiopathic generalized epilepsy, Epilepsy
RS2113464798 GABRA1 Health Risk Pathogenic Idiopathic generalized epilepsy, Epilepsy
RS2113468939 GEMIN5 Health Risk Pathogenic Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
RS2113485043 SQSTM1 Health Risk Likely pathogenic —
RS2113485289 SQSTM1 Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS2113485292 SQSTM1 Health Risk Pathogenic Neurodegeneration with ataxia, dystonia
RS2113487920 SQSTM1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS2113491837 GEMIN5 Health Risk Pathogenic Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
RS2113498696 MSX2 Health Risk Pathogenic Cranium bifidum occultum, Cranium bifidum occultum
RS2113498725 MSX2 Health Risk Pathogenic Parietal foramina 1, Parietal foramina 1
RS2113503234 PDE6A Health Risk Pathogenic —
RS2113503389 PDE6A Health Risk Pathogenic —
RS2113503448 PDE6A Health Risk Pathogenic —
RS2113507459 PDE6A Health Risk Pathogenic —
RS2113510445 SQSTM1 Health Risk Pathogenic Neurodegeneration with ataxia, dystonia
RS2113512370 SQSTM1 Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS2113512406 SQSTM1 Health Risk Pathogenic Paget disease of bone 2, early-onset
RS2113513390 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2113520828 GEMIN5 Health Risk Pathogenic Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
RS2113549546 PDE6A Health Risk Pathogenic —
RS2113553528 PDE6A Health Risk Pathogenic —
RS2113557164 SOX4 Health Risk Pathogenic —
RS2113558095 PDE6A Health Risk Pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS2113558441 SOX4 Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 10, Coffin-Siris syndrome 10
RS2113559002 DOCK2 Health Risk Pathogenic DOCK2 deficiency, DOCK2 deficiency
RS2113582262 PDE6A Health Risk Likely pathogenic —
RS2113582639 PDE6A Health Risk Pathogenic —
RS2113586514 PDE6A Health Risk Pathogenic —
RS2113586537 PDE6A Health Risk Pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS2113595869 PDE6A Health Risk Pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS2113596006 RIPK1 Health Risk Likely pathogenic —
RS2113598938 GABRG2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 74
RS2113598950 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS2113599162 GABRG2 Health Risk Likely pathogenic Febrile seizures, familial
RS2113599212 GABRG2 Health Risk Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2113607375 RIPK1 Health Risk Pathogenic Immunodeficiency 57, Immunodeficiency 57
RS2113628991 DSP Health Risk Likely pathogenic —
RS2113629234 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2113632484 GABRG2 Health Risk Pathogenic Febrile seizures, familial
RS2113632555 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2113633149 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS2113640690 PDE6A Health Risk Likely pathogenic —
RS2113650735 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2113657559 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2113657846 DSP Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2113659544 DSP Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2113659637 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2113660108 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2113663875 NIPAL4 Health Risk Pathogenic —
RS2113665067 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2113665124 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2113666898 DSP Health Risk Pathogenic Cardiomyopathy, dilated
RS2113669181 DSP Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS2113669223 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2113669445 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2113669536 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2113669594 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2113670056 NIPAL4 Health Risk Likely pathogenic Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1
RS2113670901 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2113671104 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2113671123 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2113672480 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2113672514 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2113673067 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2113673178 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2113673248 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
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