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
RS397516695 DES Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1S, Desmin-related myofibrillar myopathy
RS397516698 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS397516701 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS397516702 DSG2 Health Risk Likely pathogenic —
RS397516703 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS397516705 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS397516706 DSG2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS397516709 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS397516711 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS397516712 DSG2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS397516714 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Dilated cardiomyopathy 1JJ
RS397516716 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Dilated cardiomyopathy 1JJ
RS397516723 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS397516730 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS397516733 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiomyopathy
RS397516735 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS397516736 LAMP2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Danon disease
RS397516738 LAMP2 Health Risk Pathogenic Hypertrophic cardiomyopathy, Danon disease
RS397516739 LAMP2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS397516740 LAMP2 Health Risk Pathogenic Danon disease, Nonpapillary renal cell carcinoma
RS397516743 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS397516751 LAMP2 Health Risk Pathogenic/Likely pathogenic Danon disease, Hypertrophic cardiomyopathy
RS397516752 LAMP2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS397516764 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiomyopathy
RS397516775 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS397516784 PLN Health Risk Pathogenic Primary dilated cardiomyopathy, Cardiomyopathy
RS397516785 PLN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P
RS397516789 MAP2K1 Health Risk Conflicting classifications of pathogenicity Cardio-facio-cutaneous syndrome, Cardiofaciocutaneous syndrome 3
RS397516790 MAP2K1 Health Risk Pathogenic Cardio-facio-cutaneous syndrome, RASopathy
RS397516791 MAP2K1 Health Risk Pathogenic Cardio-facio-cutaneous syndrome, Noonan syndrome and Noonan-related syndrome
RS397516792 MAP2K1 Health Risk Pathogenic Cardiofaciocutaneous syndrome 3, Cardio-facio-cutaneous syndrome
RS397516793 MAP2K1 Health Risk Pathogenic Cardio-facio-cutaneous syndrome, Inborn genetic diseases
RS397516801 PTPN11 Health Risk Pathogenic Noonan syndrome, RASopathy
RS397516802 PTPN11 Health Risk Pathogenic Noonan syndrome, Noonan syndrome 1
RS397516803 PTPN11 Health Risk Likely pathogenic Noonan syndrome, RASopathy
RS397516806 PTPN11 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 1, Metachondromatosis
RS397516807 PTPN11 Health Risk Pathogenic Metachondromatosis, RASopathy
RS397516809 PTPN11 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, RASopathy
RS397516810 PTPN11 Health Risk Pathogenic Noonan syndrome, Noonan syndrome 3
RS397516813 RAF1 Health Risk Pathogenic Noonan syndrome, RASopathy
RS397516815 RAF1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, RASopathy
RS397516821 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS397516822 RAF1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Noonan syndrome 5
RS397516825 RAF1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, RASopathy
RS397516826 RAF1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, RASopathy
RS397516827 RAF1 Health Risk Pathogenic RASopathy, Noonan syndrome 5
RS397516828 RAF1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, Noonan syndrome 5
RS397516829 RAF1 Health Risk Pathogenic Noonan syndrome, RASopathy
RS397516830 RAF1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome, RASopathy
RS397516833 SDHB Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS397516834 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS397516835 SDHB Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS397516836 SDHB Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS397516840 TGFBR2 Health Risk Likely pathogenic Loeys-Dietz syndrome, Loeys-Dietz syndrome
RS397516845 TNNC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13
RS397516849 TNNC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13
RS397516855 CSRP3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
RS397516858 CSRP3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
RS397516859 CSRP3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
RS397516861 TCAP Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
RS397516862 TCAP Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Cardiovascular phenotype
RS397516863 TCAP Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
RS397516871 GJB2 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A
RS397516873 GJB2 Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A
RS397516874 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness
RS397516875 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS397516877 GJB2 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397516881 BAG3 Health Risk Pathogenic Primary dilated cardiomyopathy, Myofibrillar myopathy 6
RS397516882 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS397516883 BAG3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 6
RS397516890 BRAF Health Risk Pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS397516891 BRAF Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS397516892 BRAF Health Risk Pathogenic/Likely pathogenic Cardio-facio-cutaneous syndrome, Neurodevelopmental delay
RS397516893 BRAF Health Risk Pathogenic/Likely pathogenic Cardio-facio-cutaneous syndrome, Inborn genetic diseases
RS397516894 BRAF Health Risk Pathogenic Cardio-facio-cutaneous syndrome, Cardio-facio-cutaneous syndrome
RS397516895 BRAF Health Risk Pathogenic/Likely pathogenic Cardio-facio-cutaneous syndrome, Cardiofaciocutaneous syndrome 1
RS397516896 BRAF Health Risk Likely pathogenic Non-small cell lung carcinoma, Lung adenocarcinoma
RS397516897 BRAF Health Risk Likely pathogenic Non-small cell lung carcinoma, Pilocytic astrocytoma
RS397516900 BRAF Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS397516903 BRAF Health Risk Pathogenic Noonan syndrome, Cardio-facio-cutaneous syndrome
RS397516904 BRAF Health Risk Pathogenic/Likely pathogenic Cardio-facio-cutaneous syndrome, Noonan syndrome
RS397516905 BRAF Health Risk Likely pathogenic Noonan syndrome, RASopathy
RS397516908 NKX2-5 Health Risk Likely pathogenic Heart, malformation of
RS397516909 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Cardiovascular phenotype
RS397516913 DSP Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS397516915 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS397516916 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS397516918 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS397516919 DSP Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS397516922 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS397516923 DSP Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS397516924 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS397516927 DSP Health Risk Pathogenic Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS397516928 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS397516929 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS397516932 DSP Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS397516933 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS397516940 DSP Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS397516942 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS397516943 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
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