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
RS1684008469 CHRNA1 Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Myasthenic syndrome
RS1684009556 CHRNA1 Health Risk Pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1684052200 CHRNA1 Health Risk Pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS16840561 CFHR1 Health Risk Likely pathogenic —
RS1684057503 PJVK Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS1684124082 SAMHD1 Health Risk Pathogenic Cerebral palsy, Cerebral palsy
RS1684130791 TBR1 Health Risk Pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS1684144086 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1684145823 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1684147520 TMEM127 Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1684147771 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1684148846 TMEM127 Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1684149620 TMEM127 Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1684167000 TBR1 Health Risk Likely pathogenic Attention deficit hyperactivity disorder, Autistic behavior
RS1684169157 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1684169953 TMEM127 Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1684180699 TBR1 Health Risk Pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS1684181938 TBR1 Health Risk Likely pathogenic Limb myoclonus, Severe global developmental delay
RS1684182454 TBR1 Health Risk Pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS1684207130 TBR1 Health Risk Pathogenic/Likely pathogenic —
RS1684275626 TBR1 Health Risk Likely pathogenic Delayed fine motor development, Severe global developmental delay
RS1684388744 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1684391372 TMEM127 Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Hereditary pheochromocytoma and paraganglioma
RS1684392721 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1684398953 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1684443250 POLR1B Health Risk Pathogenic Treacher Collins syndrome 4, Treacher Collins syndrome
RS1684469954 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1684483227 KCNH1 Health Risk Likely pathogenic Zimmermann-Laband syndrome 1, Zimmermann-Laband syndrome 1
RS1684563533 ATF6 Health Risk Likely pathogenic —
RS1684599962 LNPK Health Risk Pathogenic Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
RS1684627892 MERTK Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1684640743 ATF6 Health Risk Likely pathogenic —
RS1684663181 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1684663586 SCN1A Health Risk Pathogenic Febrile seizures, familial
RS1684672231 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1684673339 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1684678839 SCN1A Health Risk Pathogenic —
RS1684680680 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1684687070 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS1684688433 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1684692369 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS1684704927 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1684730153 CHN1 Health Risk Pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS1684813071 POLR1B Health Risk Pathogenic Treacher Collins syndrome 4, Treacher Collins syndrome
RS1684835050 ERCC3 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Inborn genetic diseases
RS1684840786 CXCR4 Health Risk Pathogenic Warts, hypogammaglobulinemia
RS1684841455 CXCR4 Health Risk Pathogenic Warts, hypogammaglobulinemia
RS1684842255 CXCR4 Health Risk Pathogenic Warts, hypogammaglobulinemia
RS1684878263 WIPF1 Health Risk Pathogenic Wiskott-Aldrich syndrome 2, Wiskott-Aldrich syndrome 2
RS1684899990 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS1684901295 HAX1 Health Risk Likely pathogenic Kostmann syndrome, Kostmann syndrome
RS1684904805 HAX1 Health Risk Likely pathogenic Kostmann syndrome, Kostmann syndrome
RS1684909842 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia
RS1684937955 MERTK Health Risk Likely pathogenic —
RS16849700 BCHE Health Risk Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1684975294 TTC7A Health Risk Likely pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS1684979540 MERTK Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1685036155 SLC25A12 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 39
RS1685039783 SCN3A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 62
RS1685077018 TTC21B Health Risk Likely pathogenic —
RS1685080096 TTC21B Health Risk Likely pathogenic Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS1685081916 SCN3A Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder
RS1685164393 KYNU Health Risk Likely pathogenic KYNU-related disorder, KYNU-related disorder
RS1685166989 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia
RS1685168329 ATF6 Health Risk Likely pathogenic Achromatopsia 7, Achromatopsia 7
RS1685190008 ERCC3 Health Risk Pathogenic —
RS1685193967 RYR2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 2, Arrhythmogenic right ventricular dysplasia 2
RS1685194348 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1685202380 ERCC3 Health Risk Pathogenic —
RS1685241606 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS16852741 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1685339034 MERTK Health Risk Likely pathogenic —
RS1685354796 ERCC3 Health Risk Pathogenic —
RS1685373168 GNPAT Health Risk Likely pathogenic —
RS1685487857 TTC21B Health Risk Likely pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS1685507024 SKIC2 Health Risk Pathogenic —
RS1685514075 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group L
RS1685540239 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1685554004 LRP2 Health Risk Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1685567937 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1685569880 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS1685573282 CERKL Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1685586746 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1685627126 IL36RN Health Risk Likely pathogenic Generalized pustular psoriasis, Generalized pustular psoriasis
RS1685679145 GNPAT Health Risk Pathogenic —
RS1685700930 ATF6 Health Risk Likely pathogenic —
RS16857280 DIRC3;DIRC3-AS1 Health Risk association Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response
RS1685730083 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1685734160 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1685781888 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 1
RS1685782021 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1685785467 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1685786232 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1685876126 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia
RS1685888740 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1685908703 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS1685923198 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1686095309 LRP2 Health Risk Pathogenic —
RS1686109678 ITGA6 Health Risk Pathogenic —
RS1686119579 TTC21B Health Risk Likely pathogenic Jeune thoracic dystrophy, Nephronophthisis
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