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
RS62514954 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62514955 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62514956 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62514957 PAH Health Risk Pathogenic Phenylketonuria, Inborn genetic diseases
RS62514958 PAH Health Risk Likely pathogenic Mild non-PKU hyperphenylalanemia, Phenylketonuria
RS62514959 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62516060 PAH Health Risk Pathogenic Hyperphenylalaninemia, Phenylketonuria
RS62516061 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62516062 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62516063 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62516092 PAH Health Risk Pathogenic Phenylketonuria, See cases
RS62516094 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62516095 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62516096 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62516097 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62516098 PAH Health Risk Conflicting classifications of pathogenicity Phenylketonuria, Phenylketonuria
RS62516099 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62516101 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62516102 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62516103 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62516109 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62516141 PAH Health Risk Pathogenic Phenylketonuria, Polymicrogyria
RS62516142 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62516146 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS62516147 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62516149 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62516150 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62516151 PAH Health Risk Pathogenic/Likely pathogenic Hyperphenylalaninemia, Phenylketonuria
RS62516152 PAH Health Risk Likely pathogenic Phenylketonuria, PAH-related disorder
RS62516153 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62516154 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62516155 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62516156 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62516157 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62517163 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62517164 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62517165 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62517166 PAH Health Risk Pathogenic Phenylketonuria, Inborn genetic diseases
RS62517167 PAH Health Risk Likely pathogenic Mild non-PKU hyperphenylalanemia, Phenylketonuria
RS62517168 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62517174 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62517178 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62517180 PAH Health Risk Pathogenic Phenylketonuria, PAH-related disorder
RS62517183 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62517194 PAH Health Risk Likely pathogenic Phenylketonuria, Malignant tumor of breast
RS62517195 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62517198 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62517199 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62517200 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62517201 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62517204 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62517205 PAH Health Risk Likely pathogenic Phenylketonuria, Hyperphenylalaninemia
RS62517206 PAH Health Risk Conflicting classifications of pathogenicity Phenylketonuria, Inborn genetic diseases
RS62517207 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62517208 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62519577 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Seizures
RS62541771 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS62542664 IFT74 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 22, Inborn genetic diseases
RS6256 PTH Health Risk Likely pathogenic Primary hyperparathyroidism, Familial hypoparathyroidism
RS62576475 SETX Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Inborn genetic diseases
RS62617075 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Retinitis pigmentosa
RS62617809 TAFAZZIN Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS62619209 SCNN1A Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS62619919 PHYH Health Risk Conflicting classifications of pathogenicity Phytanic acid storage disease, Nonsyndromic cleft lip palate
RS62619935 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS62620007 AKAP12 Health Risk Conflicting classifications of pathogenicity —
RS62620227 PIK3R5 Health Risk Conflicting classifications of pathogenicity Ataxia with oculomotor apraxia type 3, Ataxia with oculomotor apraxia type 3
RS62620697 PDCD6IP Health Risk Conflicting classifications of pathogenicity —
RS62620999 SCNN1A Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS62621067 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, QARS1-related disorder
RS62621089 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS62621193 ARID4A Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Gastric cancer
RS62621664 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS62621815 P4HTM Health Risk Conflicting classifications of pathogenicity P4HTM-related disorder, Inborn genetic diseases
RS62621875 COL4A2 Health Risk Pathogenic —
RS62622817 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS62623459 F2 Health Risk Conflicting classifications of pathogenicity; risk factor PROTHROMBIN TYPE 3, Congenital prothrombin deficiency
RS62625011 UGT1A1 Health Risk Pathogenic/Likely pathogenic Crigler-Najjar syndrome type 1, Gilbert syndrome
RS62625014 CNGA1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa
RS62625015 CFH Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Hemolytic uremic syndrome
RS62625271 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS62625272 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS62625276 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS62625277 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS62625278 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS62625284 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS62625299 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS62625300 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS62625301 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS62625303 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS62625304 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS62625306 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS62625307 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS62625308 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS62626270 TWNK Health Risk Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia
RS62626271 TWNK Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS62635000 RPGR Health Risk Pathogenic RPGR-related retinopathy, Primary ciliary dyskinesia
RS62635001 RPGR Health Risk Pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS62635002 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinal dystrophy
RS62635004 RPGR Health Risk Likely pathogenic RPGR-related retinopathy, RPGR-related retinopathy
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