SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886038972 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038975 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038976 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886038978 ACTA2 Health Risk Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 6
RS886038979 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038983 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS886038984 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886038987 FLNA Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038990 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS886038992 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS886038996 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886039004 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886039009 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886039018 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Brugada syndrome 1
RS886039027 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886039028 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886039030 MYH7 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS886039034 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886039035 FBN1 Health Risk Pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Familial thoracic aortic aneurysm and aortic dissection
RS886039036 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS886039038 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886039042 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS886039043 KCNH2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Long QT syndrome 2
RS886039044 BAG3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886039045 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Long QT syndrome 2
RS886039047 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, FBN1-related disorder
RS886039050 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886039054 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886039063 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS886039064 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS886039066 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886039072 FBN1 Health Risk Pathogenic/Likely pathogenic Brugada syndrome 1, Familial thoracic aortic aneurysm and aortic dissection
RS886039082 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886039083 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS886039084 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886039089 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886039090 MYH7 Health Risk Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS886039092 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886039104 FLNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Heterotopia
RS886039106 TGFBR2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886039117 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886039120 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886039125 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886039127 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1AA
RS886039128 DSC2 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886039132 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886039136 GLA Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Fabry disease
RS886039137 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS886039139 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS886039145 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, TTN-related disorder
RS886039153 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS886039154 FBN1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886039158 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886039162 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, MYH7-related skeletal myopathy
RS886039167 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886039175 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886039176 TGFBR1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886039177 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886039178 DSP Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS886039182 BAG3 Health Risk Pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1HH
RS886039183 KCNH2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Long QT syndrome
RS886039185 MYH7 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS886039196 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886039197 COL5A2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS886039200 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS886039204 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS886039208 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886039211 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886039216 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS886039217 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS886039218 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS886039219 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS886039220 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS886039221 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS886039222 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS886039223 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS886039227 DCTN1 Health Risk Likely pathogenic Perry syndrome, Perry syndrome
RS886039228 DCTN1 Health Risk Conflicting classifications of pathogenicity Perry syndrome, Amyotrophic lateral sclerosis type 1
RS886039230 MAP3K7 Health Risk Pathogenic Frontometaphyseal dysplasia 2, Frontometaphyseal dysplasia 2
RS886039231 MAP3K7 Health Risk Pathogenic Frontometaphyseal dysplasia 2, Frontometaphyseal dysplasia 2
RS886039232 MAP3K7 Health Risk Pathogenic Frontometaphyseal dysplasia 2, Frontometaphyseal dysplasia 2
RS886039233 MAP3K7 Health Risk Pathogenic Frontometaphyseal dysplasia 2, Frontometaphyseal dysplasia 2
RS886039234 MAP3K7 Health Risk Pathogenic Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome
RS886039235 MAP3K7 Health Risk Pathogenic Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome
RS886039236 MAP3K7 Health Risk Pathogenic Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome
RS886039237 MAP3K7 Health Risk Pathogenic Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome
RS886039243 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS886039245 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS886039246 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS886039247 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS886039249 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS886039251 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS886039252 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS886039253 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS886039255 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Epilepsy
RS886039256 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS886039261 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS886039263 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS886039266 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS886039268 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
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