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
RS367572836 PTPRQ Health Risk Conflicting classifications of pathogenicity —
RS367574304 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS367576572 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS367576664 IMPG1 Health Risk Pathogenic Vitelliform macular dystrophy 4, IMPG1-related disorder
RS367577142 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS367577861 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS367578361 ALDH18A1 Health Risk Likely pathogenic Cutis laxa, autosomal dominant 3
RS367578415 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS367578442 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS367579275 KLHL40 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Nemaline myopathy 8
RS367579811 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS367579980 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS367580261 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS367580653 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS367580862 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS367582115 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS367582146 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Medulloblastoma
RS367582957 CCDC88A Health Risk Conflicting classifications of pathogenicity —
RS367583144 LCA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367584015 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS367584549 NARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS367584657 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS367585401 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS367585605 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS367586350 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS367586502 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS367588475 ADGRV1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS367588704 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS367589841 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS367590716 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS367592190 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS367592401 INPP5E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Joubert syndrome
RS367592943 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS367594144 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS367594261 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS367594943 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS367595212 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS367596462 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS367596694 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS367596859 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS367596929 TBCD Health Risk Conflicting classifications of pathogenicity —
RS367598361 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367598897 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Inborn genetic diseases
RS367598954 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W
RS367599281 DYNC2I1 Health Risk Likely pathogenic —
RS367600757 NPHP1 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis
RS367600930 CEP120 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS367601102 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Cone-rod dystrophy 7
RS367601258 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS367601456 KIAA1549 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS367601527 HCCS Health Risk Conflicting classifications of pathogenicity HCCS-related disorder, HCCS-related disorder
RS367601805 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS367601832 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS367603152 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS367603302 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS367603381 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS367604031 AR Health Risk Conflicting classifications of pathogenicity Kennedy disease, Androgen resistance syndrome
RS367605756 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS367606156 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS367606199 ERBB2 Health Risk Conflicting classifications of pathogenicity Visceral neuropathy, familial
RS367606284 TTN Health Risk Conflicting classifications of pathogenicity —
RS367607444 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS367607560 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS367607652 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS367608044 KCTD7 Health Risk Pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS367608150 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS367608402 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS367609791 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS367610201 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy
RS367610393 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Autoinflammatory syndrome
RS367610523 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS367610893 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS367610920 EIF2AK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial pulmonary capillary hemangiomatosis
RS367611068 ORC1 Health Risk Pathogenic/Likely pathogenic Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS367611336 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS367611371 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS367612153 MMP13 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, Missouri type
RS367613392 ATF6 Health Risk Pathogenic —
RS367613610 PIK3AP1 Health Risk Conflicting classifications of pathogenicity Infantile spasms, Infantile spasms
RS367613848 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS367614052 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS367614726 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS367614843 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS367614851 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS367614875 AP4M1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS367615315 RAG2 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS367615733 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS367615795 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Inborn genetic diseases
RS367616150 PPIB Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 9, Osteogenesis imperfecta
RS367616773 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
RS367617209 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS367617288 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS367617527 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS367618012 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS367618669 TMIE Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6
RS367619008 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Inborn genetic diseases
RS367620732 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS367621941 DDHD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 28, Hereditary spastic paraplegia
RS367622770 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Early-onset myopathy with fatal cardiomyopathy
RS367622987 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
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