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
RS2541332164 BEST1 Health Risk Likely pathogenic —
RS2541332425 BEST1 Health Risk Pathogenic —
RS2541332491 BEST1 Health Risk Likely pathogenic —
RS2541336939 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541337920 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541338115 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541338147 PKP2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2541338166 PKP2 Health Risk Pathogenic —
RS2541338462 PKP2 Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
RS2541338791 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541339186 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541339781 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS2541340225 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541340434 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541341442 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541342283 PKP2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2541342647 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541343011 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541344386 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541344871 PKP2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2541345285 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541347720 FREM2 Health Risk Pathogenic —
RS2541348049 FREM2 Health Risk Pathogenic —
RS2541348375 FREM2 Health Risk Pathogenic —
RS2541349823 FREM2 Health Risk Pathogenic —
RS2541350517 FREM2 Health Risk Pathogenic —
RS2541350760 FREM2 Health Risk Pathogenic —
RS2541352938 FREM2 Health Risk Pathogenic —
RS2541354342 BEST1 Health Risk Pathogenic BEST1-related disorder, BEST1-related disorder
RS2541355572 FREM2 Health Risk Pathogenic —
RS2541356389 FREM2 Health Risk Pathogenic —
RS2541358394 FREM2 Health Risk Pathogenic —
RS2541358709 FREM2 Health Risk Pathogenic —
RS2541358924 FREM2 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2541360374 FREM2 Health Risk Pathogenic —
RS2541360429 FREM2 Health Risk Pathogenic —
RS2541360961 FREM2 Health Risk Pathogenic —
RS2541362236 BEST1 Health Risk Likely pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS2541362520 FREM2 Health Risk Pathogenic —
RS2541363496 BEST1 Health Risk Pathogenic —
RS2541363547 BEST1 Health Risk Likely pathogenic —
RS2541363953 BEST1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2541365590 ACBD5 Health Risk Pathogenic —
RS2541372043 BEST1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2541372399 BEST1 Health Risk Conflicting classifications of pathogenicity —
RS2541372475 BEST1 Health Risk Pathogenic —
RS2541377654 BEST1 Health Risk Pathogenic —
RS2541377668 BEST1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive bestrophinopathy, Autosomal recessive bestrophinopathy
RS2541381382 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2541382558 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2541383924 BEST1 Health Risk Pathogenic —
RS2541384120 BEST1 Health Risk Likely pathogenic —
RS2541384185 CEP164 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2541384294 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541384623 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541384720 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2541384801 BEST1 Health Risk Pathogenic —
RS2541384886 BEST1 Health Risk Pathogenic —
RS2541385187 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS2541385249 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS2541388135 PUS1 Health Risk Likely pathogenic PUS1-related disorder, Myopathy
RS2541388364 PUS1 Health Risk Likely pathogenic —
RS2541388871 PUS1 Health Risk Pathogenic Myopathy, lactic acidosis
RS2541388910 PUS1 Health Risk Pathogenic —
RS2541388990 PUS1 Health Risk Likely pathogenic Myopathy, lactic acidosis
RS2541389252 PUS1 Health Risk Likely pathogenic Myopathy, lactic acidosis
RS2541389318 PUS1 Health Risk Pathogenic —
RS2541395701 BEST1 Health Risk Pathogenic —
RS2541396017 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2541396155 BEST1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2541398728 SPTAN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 5
RS2541398976 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2541399701 BEST1 Health Risk Pathogenic BEST1-related disorder, BEST1-related disorder
RS2541400072 BEST1 Health Risk Likely pathogenic Autosomal recessive bestrophinopathy, Autosomal recessive bestrophinopathy
RS2541400979 FANCC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541401443 FANCC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541401806 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2541403255 OTOGL Health Risk Pathogenic —
RS2541412514 BEST1 Health Risk Likely pathogenic —
RS2541415623 BEST1 Health Risk Pathogenic —
RS2541425433 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1O
RS2541427804 FREM2 Health Risk Pathogenic —
RS2541427837 FTH1 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 9, Neurodegeneration with brain iron accumulation 9
RS2541427923 FTH1 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 9, Neurodegeneration with brain iron accumulation 9
RS2541435492 - Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2541437828 FREM2 Health Risk Pathogenic —
RS2541437870 FREM2 Health Risk Pathogenic —
RS2541452695 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2541454325 SPTAN1 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS2541458142 OTOGL Health Risk Likely pathogenic —
RS2541472333 MADD Health Risk Likely pathogenic Deeah syndrome, Deeah syndrome
RS2541485398 FREM2 Health Risk Pathogenic —
RS2541485490 FREM2 Health Risk Pathogenic —
RS2541486773 FREM2 Health Risk Pathogenic —
RS2541488826 FREM2 Health Risk Likely pathogenic Fraser syndrome 2, Fraser syndrome 2
RS2541488882 FREM2 Health Risk Pathogenic —
RS2541489493 FREM2 Health Risk Pathogenic —
RS2541489672 FREM2 Health Risk Likely pathogenic FREM2-related disorder, FREM2-related disorder
RS2541490868 RNASEH2B Health Risk Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS2541492742 ANO4 Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, Generalized epilepsy with febrile seizures plus
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