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
RS1553479603 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS1553481071 SCN9A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS1553482689 TSGA10 Health Risk Pathogenic Spermatogenic failure 26, Spermatogenic failure 26
RS1553482872 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553484094 NPHP1 Health Risk Pathogenic Nephronophthisis 1, Nephronophthisis
RS1553484601 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1553484602 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553485330 TTN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553486684 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS1553487838 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553487942 NFE2L2 Health Risk Pathogenic Immunodeficiency, developmental delay
RS1553487947 NFE2L2 Health Risk Pathogenic Immunodeficiency, developmental delay
RS1553488015 NFE2L2 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, Immunodeficiency
RS1553488049 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553488312 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553488759 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS1553488882 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1553489404 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553490323 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1553490574 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553491169 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1553491220 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553491793 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553492053 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553492481 SCN9A Health Risk Pathogenic —
RS1553493234 SLC40A1 Health Risk Pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS1553493479 SLC40A1 Health Risk Pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS1553493481 SLC40A1 Health Risk Pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS1553493553 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1553493639 TTN Health Risk Likely pathogenic —
RS1553493871 PNPT1 Health Risk Likely pathogenic —
RS1553494286 SLC40A1 Health Risk Pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS1553494436 STAT1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1553495048 SCN9A Health Risk Likely pathogenic Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain
RS1553495104 SCN9A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1553495140 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553495184 STAT1 Health Risk Pathogenic —
RS1553495699 SLC40A1 Health Risk Pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS1553495983 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1553496051 SATB2 Health Risk Pathogenic —
RS1553496156 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1553496195 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1553496358 SATB2 Health Risk Likely pathogenic —
RS1553496413 SATB2 Health Risk Pathogenic —
RS1553496847 HECW2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1553496850 STAT1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS1553497886 STAT1 Health Risk Likely pathogenic —
RS1553498017 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS1553498582 SPR Health Risk Pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency
RS1553498611 SPR Health Risk Likely pathogenic —
RS1553498948 LNPK Health Risk Pathogenic Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
RS1553499757 HIBCH Health Risk Conflicting classifications of pathogenicity 3-hydroxyisobutyryl-CoA hydrolase deficiency, Inborn genetic diseases
RS1553500497 PYCR2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS1553500506 TTN Health Risk Likely pathogenic —
RS1553500574 TTN Health Risk Likely pathogenic —
RS1553500862 TUBA3D Health Risk Pathogenic Keratoconus 9, Keratoconus 9
RS1553501227 TTN Health Risk Likely pathogenic Myopathy, myofibrillar
RS1553501572 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1553501873 HIBCH Health Risk Likely pathogenic Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency, Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
RS1553501889 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553502168 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553503113 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553503175 NDUFS1 Health Risk Likely pathogenic —
RS1553503177 NDUFS1 Health Risk Pathogenic —
RS1553503200 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1553503201 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553503473 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1553504273 SATB2 Health Risk Likely pathogenic —
RS1553504456 LRP2 Health Risk Pathogenic —
RS1553504889 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553505302 HIBCH Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553505929 PDE11A Health Risk Likely pathogenic —
RS1553506164 HIBCH Health Risk Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS1553506317 ALS2 Health Risk Pathogenic —
RS1553506530 TTC21B Health Risk Pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS1553506655 NDUFS1 Health Risk Pathogenic —
RS1553506938 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1553507155 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553507167 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1553507180 COL3A1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1553507183 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553507249 COL3A1 Health Risk Likely pathogenic —
RS1553507265 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1553507274 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1553507345 COL3A1 Health Risk Likely pathogenic Aortic dissection, Aortic dissection
RS1553507389 SATB2 Health Risk Pathogenic SATB2-related disorder, SATB2-related disorder
RS1553507391 SATB2 Health Risk Likely pathogenic —
RS1553507432 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1553507557 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1553507574 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1553507614 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1553507751 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Dilated cardiomyopathy 1G
RS1553507793 COL3A1 Health Risk Likely pathogenic —
RS1553507863 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1553507867 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1553507953 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1553507955 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1553507991 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1553508025 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1553508039 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
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