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
RS189048508 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1890524790 PUS1 Health Risk Pathogenic —
RS1890558787 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1890579284 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1890589984 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS189059377 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS189059447 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS189061214 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS1890623871 AFG2B Health Risk Likely pathogenic SPATA5L1-associated disorder, SPATA5L1-associated disorder
RS1890625577 AFG2B Health Risk Likely pathogenic Neurodevelopmental disorder with hearing loss and spasticity, SPATA5L1-associated disorder
RS1890630965 SUOX Health Risk Likely pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1890647333 SUOX Health Risk Likely pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1890661164 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1890663087 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1890663871 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1890664852 NEMF Health Risk Pathogenic Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
RS189067014 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS1890688726 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, SUOX-related disorder
RS1890695996 YY1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1890697895 YY1 Health Risk Likely pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS1890710370 AFG2B Health Risk Pathogenic SPATA5L1-associated disorder, SPATA5L1-associated disorder
RS1890722878 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1890742129 CCDC32 Health Risk Pathogenic Cardiofacioneurodevelopmental syndrome, Cardiofacioneurodevelopmental syndrome
RS1890742227 GABRB3 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1890744574 GABRB3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 43
RS1890756020 CCDC32 Health Risk Pathogenic Cardiofacioneurodevelopmental syndrome, Cardiofacioneurodevelopmental syndrome
RS189077405 ABCA3 Health Risk Pathogenic Interstitial lung disease due to ABCA3 deficiency, ABCA3-related disorder
RS189078025 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS189080233 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS189081258 TULP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 15, Retinitis pigmentosa
RS1890825132 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS189083857 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS189084497 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS1890853802 ADSS1 Health Risk Likely pathogenic Myopathy, distal
RS1890857965 GABRB3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 43
RS189087821 TECRL Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 3, Cardiovascular phenotype
RS189089312 ROBO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1890903910 CCDC88C Health Risk Likely pathogenic —
RS189091977 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS1890963211 TTLL5 Health Risk Pathogenic —
RS1890974853 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1890979278 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS189100009 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Intellectual disability
RS1891001641 NEMF Health Risk Pathogenic —
RS1891004545 NEMF Health Risk Pathogenic Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
RS1891020302 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS189103460 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS189103810 SLC46A1 Health Risk Conflicting classifications of pathogenicity Congenital defect of folate absorption, Congenital defect of folate absorption
RS189104619 ADGRG2 Health Risk Conflicting classifications of pathogenicity Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1891052909 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS189105609 KIAA0753 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1891062680 PUS1 Health Risk Pathogenic —
RS1891064076 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891064547 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
RS1891066038 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1891068271 PUS1 Health Risk Pathogenic —
RS1891071442 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1891073366 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891076536 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891080553 PUS1 Health Risk Pathogenic —
RS1891083321 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1891095978 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1891099996 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1891101628 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891110127 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891110395 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891113792 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891128178 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891145931 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891152911 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189115557 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS1891157230 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1891170502 SLC12A6 Health Risk Pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1891173247 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1891176092 GABRB3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 43
RS189118006 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, JMJD1C-related disorder
RS189118525 IARS2 Health Risk Conflicting classifications of pathogenicity —
RS1891185645 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS1891186811 DICER1 Health Risk Pathogenic —
RS189118723 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS1891189175 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891189470 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891190344 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891190597 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS189119295 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1891196015 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891196616 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891196840 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS1891196863 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189122492 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS1891259083 HERC2 Health Risk Pathogenic Prader-Willi syndrome, Prader-Willi syndrome
RS1891261476 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS189127014 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1891277164 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1891292616 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891297825 SLC12A6 Health Risk Pathogenic —
RS1891300695 TECPR2 Health Risk Likely pathogenic Hereditary spastic paraplegia 49, Sensory autonomic neuropathy with intellectual disability
RS1891300902 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891304213 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1891304588 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
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