SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS79392371 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder
RS79395563 BNC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS79400016 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS79400048 PDE11A Health Risk Conflicting classifications of pathogenicity Pigmented nodular adrenocortical disease, primary
RS79405108 KMT2A Health Risk Pathogenic —
RS79406408 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS79407758 MYO7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS79410539 COX15 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS79412180 RSPH9 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 12
RS79414242 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, CHAT-related disorder
RS79424354 CNNM4 Health Risk Pathogenic Jalili syndrome, Jalili syndrome
RS79426098 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS79431304 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS79436363 WDR19 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS79439293 AUTS2 Health Risk Conflicting classifications of pathogenicity AUTS2-related disorder, AUTS2-related disorder
RS79440238 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS79446920 IL12B Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Inborn genetic diseases
RS79456940 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS79457258 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS79457490 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS79469730 CASQ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS794726653 VIPAS39 Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS794726655 TSPAN12 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS794726656 PTS Health Risk Pathogenic Hyperphenylalaninemia, bh4-deficient
RS794726658 VPS33B Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS794726659 SIL1 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS794726660 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS794726661 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS794726662 LCAT Health Risk Pathogenic LCAT deficiency, LCAT deficiency
RS794726663 LCAT Health Risk Pathogenic LCAT deficiency, LCAT deficiency
RS794726664 LCAT Health Risk Pathogenic Fish-eye disease, Fish-eye disease
RS794726665 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Short-rib thoracic dysplasia 6 with or without polydactyly
RS794726666 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS794726667 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS794726668 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS794726669 HSD11B2 Health Risk Conflicting classifications of pathogenicity Apparent mineralocorticoid excess, mild
RS794726672 KIT Health Risk Pathogenic Piebaldism, Piebaldism
RS794726673 KIT Health Risk Pathogenic Piebaldism, Piebaldism
RS794726674 KIT Health Risk Pathogenic Piebaldism, Piebaldism
RS794726675 KIT Health Risk Pathogenic Piebaldism, Gastrointestinal stromal tumor
RS794726676 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS794726677 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS794726678 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS794726679 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS794726680 ANO10 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS794726681 ANO10 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS794726682 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS794726683 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS794726684 HSD11B2 Health Risk Pathogenic Apparent mineralocorticoid excess, Apparent mineralocorticoid excess
RS794726685 GPR179 Health Risk Pathogenic Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS794726686 GPR179 Health Risk Pathogenic Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS794726688 ADAMTSL4 Health Risk Pathogenic Ectopia lentis 2, isolated
RS794726689 ADAMTSL4 Health Risk Pathogenic Ectopia lentis 2, isolated
RS794726691 TTC19 Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS794726692 TTC19 Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS794726693 PROP1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS794726695 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS794726696 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS794726697 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Seizure
RS794726698 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726699 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS794726700 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS794726701 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726702 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726703 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726704 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726705 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS794726706 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726707 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726708 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS794726709 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726710 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Seizure
RS794726711 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy
RS794726712 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726713 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS794726714 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726716 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726717 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726718 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS794726719 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726720 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS794726721 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726722 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726723 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726724 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726725 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS794726726 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS794726727 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726728 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726729 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726730 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS794726731 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726732 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726733 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS794726734 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726735 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726736 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, SCN1A-related disorder
RS794726737 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726738 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726739 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
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