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
RS1597563234 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597563274 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597563280 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597563287 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597563316 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597563323 FBN1 Health Risk Likely pathogenic —
RS1597563934 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597564038 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597564359 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597564608 ALDH3A2 Health Risk Pathogenic —
RS1597565298 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597566356 FOXN1 Health Risk Pathogenic T-lymphocyte deficiency, T-cell immunodeficiency
RS1597566470 FOXN1 Health Risk Likely pathogenic T-cell immunodeficiency, congenital alopecia
RS1597566699 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS1597566726 FOXN1 Health Risk Pathogenic T-lymphocyte deficiency, T-cell immunodeficiency
RS1597567246 FBN1 Health Risk Pathogenic FBN1-related disorder, Marfan syndrome
RS1597567249 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597567692 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS1597567985 FOXN1 Health Risk Likely pathogenic T-cell immunodeficiency, congenital alopecia
RS1597568117 FOXN1 Health Risk Likely pathogenic T-cell lymphopenia, infantile
RS1597568290 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597568822 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597568880 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597568968 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597569159 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597569172 FBN1 Health Risk Likely pathogenic —
RS1597569265 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597569536 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597569551 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597569553 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597569560 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597569589 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597570621 GALNS Health Risk Likely pathogenic Abnormality of the skeletal system, Abnormality of the skeletal system
RS1597571360 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597571391 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597574088 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1597574156 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597574166 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597574236 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597574308 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597574368 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1597575641 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1597577114 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597577795 FA2H Health Risk Likely pathogenic —
RS1597577975 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597578071 FBN1 Health Risk Pathogenic —
RS1597578721 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS1597578776 FLCN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597578831 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax
RS1597578868 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597579055 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1597579923 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597579948 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597580340 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1597580984 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597581001 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597581005 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597581008 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
RS1597583989 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Achondroplasia
RS1597584082 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597587532 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597587564 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597591391 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1597591602 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597591643 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597591735 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597591875 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1597592246 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1597593695 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597593736 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597593852 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597597437 SPG7 Health Risk Pathogenic Polyneuropathy, Hereditary spastic paraplegia 7
RS1597597445 PMP22 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1597597527 PMP22 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1597597534 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1597597627 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1597597678 PMP22 Health Risk Pathogenic Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease
RS1597597900 PMP22 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1597606551 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1597607423 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597607514 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1597607532 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1597607638 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1597607651 PMP22 Health Risk Pathogenic Dejerine-Sottas disease, Dejerine-Sottas disease
RS1597607920 PMP22 Health Risk Conflicting classifications of pathogenicity Dejerine-Sottas disease, Charcot-Marie-Tooth disease
RS1597608057 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1597608086 PMP22 Health Risk Pathogenic Dejerine-Sottas disease, Charcot-Marie-Tooth disease
RS1597608203 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1597608225 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1597612665 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1597612985 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1597613070 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597613279 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1597613302 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1597613479 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A
RS1597617010 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597617148 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1597617757 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1597618162 FLCN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS1597618627 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pneumothorax - familial
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