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
RS2505383497 WDR73 Health Risk Pathogenic Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS2505383706 ACAN Health Risk Likely pathogenic ACAN-related disorder, ACAN-related disorder
RS2505383886 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505384072 FBN1 Health Risk Conflicting classifications of pathogenicity 8 conditions, 8 conditions
RS2505384221 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505384396 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505384490 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome
RS2505384499 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505384718 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505385125 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505385147 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505385256 BLM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505385265 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505385302 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505390122 TRIP4 Health Risk Pathogenic Centronuclear myopathy, Centronuclear myopathy
RS2505390134 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505390165 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505390555 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505390889 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2505391788 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505392471 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505392601 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2505392796 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505392993 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS2505393049 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505393108 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505393476 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505393905 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505393918 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2505394597 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505394659 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505394817 FBN1 Health Risk Pathogenic —
RS2505394853 FBN1 Health Risk Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS2505395070 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505395185 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505395364 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505395413 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505396686 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505396790 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505396805 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505397585 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505398008 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505398111 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505399442 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505399445 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505399457 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505399512 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505399550 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505399652 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505399734 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505399779 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505399859 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505399894 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505399901 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505399914 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505400284 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505400603 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2505400713 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505400736 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505400971 CLN6 Health Risk Likely pathogenic Ceroid lipofuscinosis, neuronal
RS2505401242 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2505401316 CLN6 Health Risk Likely pathogenic Ceroid lipofuscinosis, neuronal
RS2505401351 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2505401392 CLN6 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS2505401937 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505403157 TRIP4 Health Risk Pathogenic —
RS2505403454 TRIP4 Health Risk Pathogenic Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1
RS2505404103 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2505404425 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2505406414 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505406729 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505406895 FBN1 Health Risk Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS2505406989 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505406998 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505407341 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS2505407519 CLN6 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2505407634 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS2505407693 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2505408007 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505408062 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505408108 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505408183 FBN1 Health Risk Likely pathogenic —
RS2505408196 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505409311 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2505409424 CLN6 Health Risk Likely pathogenic Ceroid lipofuscinosis, neuronal
RS2505409451 CLN6 Health Risk Likely pathogenic Ceroid lipofuscinosis, neuronal
RS2505409701 CLN6 Health Risk Likely pathogenic Ceroid lipofuscinosis, neuronal
RS2505410422 TRIP4 Health Risk Pathogenic —
RS2505410580 TRIP4 Health Risk Pathogenic —
RS2505412101 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505412368 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505412414 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505412622 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505412815 FBN1 Health Risk Pathogenic FBN1-related disorder, FBN1-related disorder
RS2505412931 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505412944 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505414784 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2505414849 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2505414959 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2505415054 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
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