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
RS2479800482 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479801847 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479801867 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479801974 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479802016 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS2479803228 FBN2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2479809369 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479809390 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479809519 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479809538 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479809648 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479809749 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479813429 MEGF10 Health Risk Pathogenic Congenital myopathy 10b, mild variant
RS2479828044 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS2479875652 GRIA1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 67
RS2479896089 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2479902942 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS2479903658 GLRA1 Health Risk Likely pathogenic Hyperekplexia 1, Hyperekplexia 1
RS2479925988 KLHL3 Health Risk Pathogenic Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D
RS2479930880 SGCD Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS2479930998 SGCD Health Risk Likely pathogenic Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L
RS2479939785 ENPP1 Health Risk Pathogenic —
RS2479950418 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2479961112 FAT2 Health Risk Likely pathogenic Spinocerebellar ataxia 45, Spinocerebellar ataxia 45
RS2479969893 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS2479981350 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS2479991143 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS2479991264 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS2479991322 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS2479991693 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS2479999946 GABRB2 Health Risk Pathogenic Intellectual disability, Inborn genetic diseases
RS2480000318 GABRB2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92
RS2480000325 GABRB2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2480063069 GLRA1 Health Risk Likely pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS2480063154 GLRA1 Health Risk Likely pathogenic Hyperekplexia 1, Hyperekplexia 1
RS2480071578 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Atrial septal defect 7
RS2480071978 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2480071984 NKX2-5 Health Risk Likely pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2480072130 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2480072174 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2480072407 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2480072423 NKX2-5 Health Risk Pathogenic/Likely pathogenic Atrial septal defect 7, Cardiovascular phenotype
RS2480072428 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2480072807 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2480072905 NKX2-5 Health Risk Likely pathogenic —
RS2480072950 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2480073143 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2480073228 NKX2-5 Health Risk Likely pathogenic Tetralogy of Fallot, Tetralogy of Fallot
RS2480073440 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2480079168 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2480079215 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2480079337 NKX2-5 Health Risk Pathogenic Cardiovascular phenotype, Atrial septal defect 7
RS2480079410 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS2480148186 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480148279 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480148505 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480166608 GABRB2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2480172020 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480190517 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480190797 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480195718 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480196236 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480196300 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480198849 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS2480198981 SPINK1 Health Risk Likely pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS2480199266 SPINK1 Health Risk Pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS2480199584 SQSTM1 Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS2480201084 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS2480208932 SQSTM1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS2480209302 KDM3B Health Risk Likely pathogenic Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS2480210250 SGCD Health Risk Likely pathogenic Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L
RS2480217162 KDM3B Health Risk Likely pathogenic Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS2480217243 KDM3B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2480231295 KDM3B Health Risk Likely pathogenic Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS2480234536 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480234649 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480235236 GRIA1 Health Risk Likely pathogenic GRIA1-related disorder, GRIA1-related disorder
RS2480236167 KDM3B Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2480236305 KDM3B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Diets-Jongmans syndrome
RS2480238893 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480240157 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480242550 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480242710 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480242738 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480242747 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480242765 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480242791 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480243026 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480243842 SQSTM1 Health Risk Pathogenic Paget disease of bone 2, early-onset
RS2480244186 SQSTM1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS2480244231 SQSTM1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS2480244500 SQSTM1 Health Risk Pathogenic Neurodegeneration with ataxia, dystonia
RS2480245757 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2480247551 SQSTM1 Health Risk Likely pathogenic SQSTM1-related disorder, SQSTM1-related disorder
RS2480247821 SGCD Health Risk Likely pathogenic Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L
RS2480248364 SQSTM1 Health Risk Pathogenic Neurodegeneration with ataxia, dystonia
RS2480248711 SGCD Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS2480251886 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480252564 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2480252596 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
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