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
RS587784573 GUCY2C Health Risk Pathogenic Meconium ileus, Meconium ileus
RS58789393 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS58806616 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS58820146 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS58824091 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
RS5882827 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, DNAH11-related disorder
RS58835716 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS58850446 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS58852768 KRT10 Health Risk Pathogenic Congenital reticular ichthyosiform erythroderma, Annular epidermolytic ichthyosis
RS5887 CETP Health Risk Conflicting classifications of pathogenicity —
RS58896330 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS58898021 DES Health Risk Pathogenic Myofibrillar myopathy, Myofibrillar myopathy
RS58901407 KRT10 Health Risk Pathogenic Epidermolytic hyperkeratosis 2A, autosomal dominant
RS58907919 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E
RS58912633 LMNA Health Risk Pathogenic Congenital muscular dystrophy due to LMNA mutation, Congenital muscular dystrophy due to LMNA mutation
RS58916399 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS58917027 LMNA Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Inborn genetic diseases
RS58918655 KRT12 Health Risk Pathogenic Corneal dystrophy, Meesmann
RS58922911 LMNA Health Risk Pathogenic Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
RS58928370 KRT1 Health Risk Likely pathogenic Palmoplantar keratoderma, epidermolytic
RS58932704 LMNA Health Risk Pathogenic/Likely pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS58949162 KRT1 Health Risk Pathogenic —
RS58949384 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, MYH6-related disorder
RS58978449 LMNA Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS58982919 NEFL Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E
RS5899 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Thrombophilia due to thrombin defect
RS58999456 DES Health Risk Pathogenic/Likely pathogenic Desmin-related myofibrillar myopathy, Primary familial dilated cardiomyopathy
RS5900 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Thrombophilia due to thrombin defect
RS5900078 COL27A1 Health Risk Pathogenic Steel syndrome, Steel syndrome
RS59004709 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS59007872 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 8 conditions
RS5901000 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS59022806 KRT1 Health Risk Pathogenic —
RS59026483 LMNA Health Risk Pathogenic Dilated cardiomyopathy 1S, Charcot-Marie-Tooth disease type 2
RS59027578 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS5903 PI4KA;SERPIND1 Health Risk Conflicting classifications of pathogenicity Heparin cofactor II deficiency, Heparin cofactor II deficiency
RS59040894 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS59056100 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 5, Breast and/or ovarian cancer
RS59062945 KDM6B Health Risk Pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS5906354 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS59075499 KRT10 Health Risk Pathogenic Annular epidermolytic ichthyosis, Annular epidermolytic ichthyosis
RS59089201 KRT1 Health Risk Pathogenic Epidermolytic hyperkeratosis 1, Epidermolytic hyperkeratosis 1
RS59092197 KRT5 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex with mottled pigmentation
RS59103647 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS59110575 KRT14 Health Risk Pathogenic —
RS59115483 KRT5 Health Risk Likely pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 2C
RS59117380 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS59139861 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS59148238 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS59151464 KRT1 Health Risk Pathogenic Epidermolytic hyperkeratosis 1, Epidermolytic hyperkeratosis 1
RS59151893 KRT17 Health Risk Pathogenic Pachyonychia congenita 2, Abnormality of the skin
RS59157279 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS59157477 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS59167148 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10
RS59169454 KRT1 Health Risk Pathogenic Ichthyosis hystrix of Curth-Macklin, Ichthyosis hystrix of Curth-Macklin
RS5917414 USP9X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS59175042 KRT10 Health Risk Pathogenic —
RS5918118 USP9X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 99
RS59183158 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS59184265 KRT5 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS59190330 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS59190510 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex 2A, generalized severe
RS5922 LCAT Health Risk Conflicting classifications of pathogenicity LCAT deficiency, Cardiovascular phenotype
RS59243757 KRT5 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS59270054 LMNA Health Risk Pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS59285727 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS59296273 KRT9 Health Risk Pathogenic Epidermolytic palmoplantar keratoderma, 1
RS59301204 LMNA Health Risk Likely pathogenic Primary dilated cardiomyopathy, Cardiomyopathy
RS59308628 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS59328451 KRT16 Health Risk Conflicting classifications of pathogenicity Pachyonychia congenita 1, Pachyonychia congenita 1
RS59331340 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS59332535 LMNA Health Risk Pathogenic/Likely pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS59349773 KRT16 Health Risk Likely pathogenic Pachyonychia congenita 1, Pachyonychia congenita 1
RS59355923 CACNA1F Health Risk Conflicting classifications of pathogenicity CACNA1F-related disorder, CACNA1F-related disorder
RS59362219 GALNT12 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, GALNT12-related disorder
RS59375065 KRT14 Health Risk Likely pathogenic —
RS59429455 KRT1 Health Risk Likely pathogenic Epidermolytic ichthyosis, KRT1-related disorder
RS59431308 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS59442925 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS59443548 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS59443585 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS59446030 PIEZO1 Health Risk Conflicting classifications of pathogenicity Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
RS5945206 IKBKG Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
RS5945430 PLXNA3 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS59461207 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS59472972 CYP1B1 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, Glaucoma 3A
RS59477041 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS59493015 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 2, TMEM216-related disorder
RS59507540 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS59510579 KRT9 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma, epidermolytic
RS59520182 MAGEC1 Health Risk Conflicting classifications of pathogenicity —
RS59551486 NEFH Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Inborn genetic diseases
RS59558623 DOCK7 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 23
RS5956 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS59564495 LMNA Health Risk Likely pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS59565950 GFAP Health Risk Pathogenic Alexander disease, Spastic paraplegia
RS59601651 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS59616921 KRT9 Health Risk Pathogenic/Likely pathogenic Palmoplantar keratoderma, epidermolytic
RS59629244 KRT14 Health Risk Likely pathogenic Epidermolysis bullosa simplex, Koebner type
RS5964 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Plasma factor XI deficiency
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