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
RS397516944 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS397516945 DSP Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS397516946 DSP Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS397516947 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS397516949 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS397516950 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS397516955 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS397516956 DSP Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS397516957 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Woolly hair-skin fragility syndrome
RS397516959 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS397516968 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS397516972 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS397516973 DSP Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS397516974 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS397516975 ERBB2 Health Risk Likely pathogenic Lung adenocarcinoma, Non-small cell lung carcinoma
RS397516976 ERBB2 Health Risk Likely pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397516977 ERBB2 Health Risk Likely pathogenic Non-small cell lung carcinoma, Lung adenocarcinoma
RS397516978 ERBB2 Health Risk Likely pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397516979 ERBB2 Health Risk Likely pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397516980 ERBB2 Health Risk Likely pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397516981 ERBB2 Health Risk Pathogenic Non-small cell lung carcinoma, Lung adenocarcinoma
RS397516982 ERBB2 Health Risk Likely pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397516983 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS397516986 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS397516987 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS397516988 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
RS397516989 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS397516992 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS397516993 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS397516994 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS397516995 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS397516996 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic ventricular cardiomyopathy
RS397516997 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS397516998 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS397516999 PKP2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS397517001 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS397517003 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS397517005 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS397517008 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS397517009 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS397517010 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS397517012 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS397517013 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS397517014 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS397517015 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS397517016 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS397517017 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS397517019 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS397517021 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS397517022 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS397517024 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS397517025 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Ventricular tachycardia
RS397517027 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS397517030 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS397517031 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome
RS397517033 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS397517040 KRAS Health Risk Likely pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397517041 KRAS Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS397517042 KRAS Health Risk Pathogenic Noonan syndrome, Noonan syndrome
RS397517045 MYO6 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS397517057 ACTC1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1R
RS397517059 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Atrial septal defect 5
RS397517065 ACTC1 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Inborn genetic diseases
RS397517067 ACTC1 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 11, Atrial septal defect 5
RS397517071 ACTC1 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Left ventricular noncompaction
RS397517073 ACTC1 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS397517076 CBL Health Risk Pathogenic Noonan syndrome, Inborn genetic diseases
RS397517077 CBL Health Risk Pathogenic/Likely pathogenic CBL-related disorder, RASopathy
RS397517082 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS397517086 EGFR Health Risk Pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397517094 EGFR Health Risk Likely pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397517098 EGFR Health Risk Likely pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397517100 EGFR Health Risk Likely pathogenic Lung adenocarcinoma, Lung adenocarcinoma
RS397517102 EGFR Health Risk Conflicting classifications of pathogenicity Lung adenocarcinoma, EGFR-related lung cancer
RS397517106 EGFR Health Risk Likely pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397517108 EGFR Health Risk Pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397517110 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS397517111 EGFR Health Risk Pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397517112 EGFR Health Risk Pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397517114 EGFR Health Risk Likely pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397517116 EGFR Health Risk Likely pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397517126 EGFR Health Risk Conflicting classifications of pathogenicity Lung adenocarcinoma, Diffuse pediatric-type high-grade glioma
RS397517127 EGFR Health Risk Pathogenic Non-small cell lung carcinoma, Lung adenocarcinoma
RS397517128 EGFR Health Risk Conflicting classifications of pathogenicity Lung carcinoma, Lung adenocarcinoma
RS397517146 SOS1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, RASopathy
RS397517147 SOS1 Health Risk Pathogenic Noonan syndrome, RASopathy
RS397517148 SOS1 Health Risk Pathogenic/Likely pathogenic RASopathy, Noonan syndrome 4
RS397517149 SOS1 Health Risk Pathogenic Noonan syndrome, Noonan syndrome 4
RS397517150 SOS1 Health Risk Likely pathogenic Noonan syndrome, RASopathy
RS397517153 SOS1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, RASopathy
RS397517154 SOS1 Health Risk Pathogenic RASopathy, Noonan syndrome and Noonan-related syndrome
RS397517156 SOS1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, Noonan syndrome 4
RS397517157 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome
RS397517159 SOS1 Health Risk Pathogenic Noonan syndrome, RASopathy
RS397517163 SOS1 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS397517164 SOS1 Health Risk Pathogenic Noonan syndrome, RASopathy
RS397517166 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, RASopathy
RS397517172 SOS1 Health Risk Pathogenic Noonan syndrome, RASopathy
RS397517174 SOS1 Health Risk Likely pathogenic RASopathy, Inborn genetic diseases
RS397517180 SOS1 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome and Noonan-related syndrome
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