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
RS1845126730 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis 1
RS184512808 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1845135533 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845135625 TSC1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1845139251 TSC1 Health Risk Pathogenic —
RS1845145732 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS1845148693 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1845149321 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845156018 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS1845169599 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS184516994 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS184519036 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS1845193663 HPS1 Health Risk Likely pathogenic —
RS184521520 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS184522376 GPD1 Health Risk Conflicting classifications of pathogenicity Transient infantile hypertriglyceridemia and hepatosteatosis, Transient infantile hypertriglyceridemia and hepatosteatosis
RS184523779 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS184524479 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS1845317249 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS1845327789 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845328711 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845364215 PAX2 Health Risk Conflicting classifications of pathogenicity Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS1845366198 PAX2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS184537159 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS1845380748 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1845383523 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS1845409168 PAX2 Health Risk Likely pathogenic —
RS1845410479 PAX2 Health Risk Pathogenic Focal segmental glomerulosclerosis 7, Focal segmental glomerulosclerosis 7
RS1845411121 PAX2 Health Risk Likely pathogenic Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis
RS184541137 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1845412705 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS1845429019 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1845433207 KAT6B Health Risk Likely pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1845446236 TSC1 Health Risk Pathogenic Lymphangiomyomatosis, Lymphangiomyomatosis
RS1845452711 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845453970 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS184545855 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS1845495899 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1845497321 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845500156 ASS1 Health Risk Likely pathogenic Citrullinemia, Citrullinemia
RS1845500801 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845504382 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845506282 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS1845507027 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia, Citrullinemia type I
RS1845510486 CNNM2 Health Risk Pathogenic Hypomagnesemia, seizures
RS1845511359 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1845534948 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS1845544924 CNNM2 Health Risk Pathogenic Hypomagnesemia, seizures
RS1845545201 CNNM2 Health Risk Pathogenic Hypomagnesemia, seizures
RS1845545378 CNNM2 Health Risk Pathogenic Hypomagnesemia, seizures
RS1845545985 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1845547583 CNNM2 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS1845548849 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1845549017 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS1845550578 CNNM2 Health Risk Pathogenic Hypomagnesemia, Hypomagnesemia
RS1845553116 CNNM2 Health Risk Pathogenic Hypomagnesemia, seizures
RS1845559552 FGFR2 Health Risk Pathogenic/Likely pathogenic FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS184556570 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS184559206 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1845604585 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845607838 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS184561385 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1845615656 TSC1 Health Risk Pathogenic Lymphangiomyomatosis, Lymphangiomyomatosis
RS1845617102 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845635382 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, TSC1-related disorder
RS184563685 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS1845637294 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1845641716 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845643067 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845652182 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845652716 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845654716 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS184567726 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS1845700817 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS184570956 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS1845711244 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS1845712748 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS184572250 RNASET2 Health Risk Conflicting classifications of pathogenicity Cystic leukoencephalopathy without megalencephaly, Cystic leukoencephalopathy without megalencephaly
RS1845724649 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845728736 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845730108 KAT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS184573698 F7 Health Risk Conflicting classifications of pathogenicity Congenital factor VII deficiency, Congenital factor VII deficiency
RS1845754405 ASS1 Health Risk Likely pathogenic Citrullinemia, Papillary renal cell carcinoma type 1
RS184575465 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS1845756775 PNPLA2 Health Risk Pathogenic —
RS1845759700 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1845790373 SLC29A3 Health Risk Likely pathogenic H syndrome, H syndrome
RS1845791308 CTSD Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1845792332 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1845839718 INS Health Risk Likely risk allele Diabetes mellitus, Type 1 diabetes mellitus 2
RS1845841728 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1845848773 ACTA2 Health Risk Conflicting classifications of pathogenicity Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm
RS1845849420 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis
RS1845849997 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis
RS1845850847 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS184585202 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS184586428 DCHS1 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 1, DCHS1-related disorder
RS184587113 ETFA Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2A
RS1845873878 INS;INS-IGF2 Health Risk Likely pathogenic Diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
RS184587533 LIPC Health Risk Conflicting classifications of pathogenicity Hyperlipidemia due to hepatic triglyceride lipase deficiency, Type 2 diabetes mellitus
RS1845876806 SLC29A3 Health Risk Likely pathogenic H syndrome, H syndrome
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