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
RS6110038 NDUFAF5 Health Risk Likely pathogenic —
RS61126080 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex
RS61130669 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS61145796 KRT6A Health Risk Pathogenic Pachyonychia congenita 3, Pachyonychia congenita 3
RS61157095 KRT9 Health Risk Pathogenic Epidermolytic palmoplantar keratoderma, 1
RS61167390 KRT12 Health Risk Likely pathogenic —
RS6118004 HAO1 Health Risk association Nephrolithiasis, calcium oxalate
RS61195471 LMNA Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1A, Primary dilated cardiomyopathy
RS6121 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS61214927 LMNA Health Risk Pathogenic Familial partial lipodystrophy, Dunnigan type
RS61218140 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS61218439 KRT1 Health Risk Pathogenic Ichthyosis, annular epidermolytic
RS6122 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal recessive
RS61221088 KRT14 Health Risk Pathogenic —
RS61232800 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS61235244 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS61263401 KRT14 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa simplex, Koebner type
RS61282106 LMNA Health Risk Pathogenic/Likely pathogenic Familial partial lipodystrophy, Dunnigan type
RS61294616 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS61295588 LMNA Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2
RS61297109 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex 1C, localized
RS61323727 ABCB7 Health Risk Conflicting classifications of pathogenicity ABCB7-related disorder, Uveal melanoma
RS61326562 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS61348424 KRT5 Health Risk Pathogenic Dowling-Degos disease 1, Dowling-Degos disease 1
RS61348633 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex 2A, generalized severe
RS61368398 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS61371557 KRT14 Health Risk Likely pathogenic Epidermolysis bullosa simplex, Koebner type
RS61372944 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS6138 TBXAS1 Health Risk Conflicting classifications of pathogenicity TBXAS1-related disorder, TBXAS1-related disorder
RS613985 HBB Health Risk Pathogenic Beta-thalassemia HBB/LCRB, Beta-thalassemia HBB/LCRB
RS6140463 HAO1 Health Risk association Nephrolithiasis, calcium oxalate
RS61434181 KRT10 Health Risk Pathogenic Epidermolytic hyperkeratosis 1, Epidermolytic hyperkeratosis 1
RS61444459 LMNA Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS61460100 KRT10 Health Risk Pathogenic —
RS61462443 KDM6B Health Risk Conflicting classifications of pathogenicity KDM6B-related disorder, KDM6B-related disorder
RS61469168 C6 Health Risk Pathogenic Complement component 6 deficiency, Immunodeficiency due to a late component of complement deficiency
RS6147 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS61491953 NEFL Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2E
RS61494991 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS61495052 KRT5 Health Risk Pathogenic —
RS61495246 CYP2R1 Health Risk Pathogenic/Likely pathogenic Vitamin D hydroxylation-deficient rickets, type 1B
RS61504484 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS6151411 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS6151414 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, ARSA-related disorder
RS61514191 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS6151426 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS6151427 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS6151428 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Malignant lymphoma
RS61521463 CCDC15 Health Risk Conflicting classifications of pathogenicity —
RS61536893 KRT14 Health Risk Likely pathogenic Epidermolysis bullosa simplex 1C, localized
RS6154 AR Health Risk Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS61548169 SACS Health Risk Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS61556467 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NEFH-related disorder
RS61578124 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS6161 CYP11A1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS61616632 KRT1 Health Risk Pathogenic Epidermolytic ichthyosis, Epidermolytic ichthyosis
RS61618583 SCN8A Health Risk Pathogenic —
RS61620549 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS61622928 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS61622935 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS61636783 EFHC2 Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS61661343 LMNA Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2
RS61664582 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex, Koebner type
RS6167 FSHR Health Risk Conflicting classifications of pathogenicity Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1
RS61672878 LMNA Health Risk Pathogenic/Likely pathogenic Muscular dystrophy, Emery-Dreifuss muscular dystrophy 2
RS61686936 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS61688134 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Myocardial infarction
RS6170 FSHB Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 24 without anosmia, FSHB-related disorder
RS61726452 KRT2 Health Risk Likely pathogenic Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens
RS61726467 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS61726470 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS61726471 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS61726474 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS61726475 LMNA Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Hutchinson-Gilford syndrome
RS61729175 HPS4 Health Risk Conflicting classifications of pathogenicity HPS4-related disorder, Inborn genetic diseases
RS61729285 CAVIN1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Congenital generalized lipodystrophy type 4
RS61729341 ZNF750 Health Risk Conflicting classifications of pathogenicity —
RS61729385 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Orthostatic hypotension 1
RS61729440 DCX Health Risk Pathogenic Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation
RS61729604 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS61729699 DNHD1 Health Risk Pathogenic/Likely pathogenic Spermatogenic failure 65, Spermatogenic failure 65
RS61729706 CEACAM16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61729766 ITGA11 Health Risk Conflicting classifications of pathogenicity —
RS61729789 SCNN1B Health Risk Conflicting classifications of pathogenicity Liddle syndrome 1, Pseudohypoaldosteronism
RS61729805 LIPG Health Risk Conflicting classifications of pathogenicity —
RS61729833 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS61729841 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS61729932 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Intellectual disability
RS61729954 SACS Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS61730004 USP53 Health Risk Conflicting classifications of pathogenicity Cholestasis, progressive familial intrahepatic
RS61730005 USP53 Health Risk Conflicting classifications of pathogenicity Cholestasis, progressive familial intrahepatic
RS61730049 CMYA5 Health Risk Conflicting classifications of pathogenicity —
RS61730051 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS61730054 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, 8 conditions
RS61730086 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS61730102 ANKRD26 Health Risk Conflicting classifications of pathogenicity ANKRD26-related disorder, Inborn genetic diseases
RS61730147 AHR Health Risk Pathogenic —
RS61730252 FAM20C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAM20C-related disorder
RS61730262 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS61730307 DSG1 Health Risk Conflicting classifications of pathogenicity DSG1-related disorder, Inborn genetic diseases
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