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
RS2538483320 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538484349 RET Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538490493 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538491923 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS2538494024 RET Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2538495135 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538495264 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538496158 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS2538496650 RET Health Risk Likely pathogenic RET-related disorder, RET-related disorder
RS2538496745 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538497105 FRRS1L Health Risk Likely pathogenic See cases, See cases
RS2538497130 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS2538498109 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538498222 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538498293 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538499186 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538500287 ARID1B Health Risk Pathogenic —
RS2538503024 FRRS1L Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 37
RS2538503118 FRRS1L Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 37
RS2538506282 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex, Ogna type
RS2538507411 ARID1B Health Risk Pathogenic Global developmental delay, Global developmental delay
RS2538507902 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538508020 ARID1B Health Risk Pathogenic ARID1B-related disorder, ARID1B-related disorder
RS2538516016 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS2538518655 TJP2 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS2538526878 NSMCE2 Health Risk Pathogenic —
RS2538531589 ZEB1 Health Risk Pathogenic Posterior polymorphous corneal dystrophy 3, Posterior polymorphous corneal dystrophy 3
RS2538548922 RET Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia
RS2538548937 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538550854 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538550904 RET Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538550958 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538552531 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2538552971 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2538557576 TJP2 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS2538558406 STXBP1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2538558707 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2538559163 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2538559187 STXBP1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2538559195 STXBP1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2538569005 RET Health Risk Likely pathogenic RET-related disorder, RET-related disorder
RS2538570824 SARDH Health Risk Likely pathogenic Sarcosine dehydrogenase deficiency, Sarcosine dehydrogenase deficiency
RS2538570852 STXBP1 Health Risk Pathogenic —
RS2538571854 TJP2 Health Risk Pathogenic —
RS2538571936 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538572119 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538574778 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538575897 STXBP1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2538576439 STXBP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2538576465 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2538576553 STXBP1 Health Risk Likely pathogenic —
RS2538576581 STXBP1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2538577041 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2538577965 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538579287 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538580044 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538580125 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2538580576 TSC1 Health Risk Likely pathogenic —
RS2538580998 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS2538583945 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS2538589269 STXBP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2538589846 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2538590798 TJP2 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS2538598662 RET Health Risk Likely pathogenic Hirschsprung disease, susceptibility to
RS2538599540 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2538599791 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2538600189 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2538600335 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2538607864 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538608656 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538609351 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538612016 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2538613011 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2538613542 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2538613606 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2538614714 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538615068 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538615387 RET Health Risk Pathogenic/Likely pathogenic RET-related disorder, RET-related disorder
RS2538616111 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538616392 RET Health Risk Likely pathogenic Hirschsprung disease, susceptibility to
RS2538617668 TSC1 Health Risk Pathogenic —
RS2538618528 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538619028 TSC1 Health Risk Pathogenic TSC1-related disorder, TSC1-related disorder
RS2538619323 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538620071 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2538620466 TSC1 Health Risk Likely pathogenic Autosomal dominant epilepsy, Autosomal dominant epilepsy
RS2538620966 TSC1 Health Risk Pathogenic —
RS2538621161 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538621598 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2538621965 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538623019 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2538623662 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538623861 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538624115 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538625661 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2538626201 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538626665 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538627080 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538627305 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2538628568 VARS2 Health Risk Pathogenic —
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