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
RS1597389370 ANKRD11;TRAPPC2L Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS1597399325 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS1597401735 GAN Health Risk Likely pathogenic —
RS1597401738 GAN Health Risk Likely pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS1597402505 FOXC2 Health Risk Pathogenic —
RS1597402771 FOXC2 Health Risk Likely pathogenic —
RS1597402926 FOXC2 Health Risk Pathogenic —
RS1597402936 FOXC2 Health Risk Likely pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1597403198 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1597407138 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS1597422213 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1597422298 WRAP53 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 3
RS1597422432 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1597425155 TUBB3 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS1597432871 ANKRD11 Health Risk Likely pathogenic —
RS1597433156 ANKRD11 Health Risk Pathogenic —
RS1597434047 AARS1 Health Risk Likely pathogenic —
RS1597434884 CTU2 Health Risk Pathogenic Microcephaly, facial dysmorphism
RS1597435337 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1597435393 ANKRD11 Health Risk Pathogenic KBG syndrome, Inborn genetic diseases
RS1597435790 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1597435885 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1597435896 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1597436476 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, KBG syndrome
RS1597438977 ASPA Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1597439028 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Inborn genetic diseases
RS1597439149 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1597440638 ANKRD11 Health Risk Pathogenic —
RS1597441359 ANKRD11 Health Risk Pathogenic —
RS1597441860 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1597442444 DLG4 Health Risk Pathogenic/Likely pathogenic Marfanoid habitus and intellectual disability, Intellectual developmental disorder 62
RS1597442680 ADGRG1 Health Risk Pathogenic —
RS1597443966 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1597444614 DLG4 Health Risk Likely pathogenic Marfanoid habitus and intellectual disability, Intellectual developmental disorder 62
RS1597444731 ANKRD11 Health Risk Likely pathogenic —
RS1597445368 ANKRD11 Health Risk Pathogenic —
RS1597445687 DHX38 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1597446183 AARS1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1597447943 ANKRD11 Health Risk Pathogenic —
RS1597448170 MYH2 Health Risk Pathogenic/Likely pathogenic Myopathy, proximal
RS1597448762 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1597449183 ANKRD11 Health Risk Pathogenic —
RS1597451690 DLG4 Health Risk Pathogenic —
RS1597451815 ANKRD11 Health Risk Pathogenic KBG syndrome, Inborn genetic diseases
RS1597452422 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1597452702 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS1597453026 TRAPPC2L Health Risk Pathogenic Encephalopathy, progressive
RS1597453595 DLG4 Health Risk Pathogenic/Likely pathogenic Marfanoid habitus and intellectual disability, Intellectual developmental disorder 62
RS1597454239 ANKRD11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1597454691 ANKRD11 Health Risk Likely pathogenic —
RS1597455532 TRAPPC2L Health Risk Pathogenic Encephalopathy, progressive
RS1597455752 ANKRD11 Health Risk Pathogenic —
RS1597456179 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS1597457977 PIEZO1 Health Risk Pathogenic/Likely pathogenic Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
RS1597458411 NLRP1 Health Risk Pathogenic Respiratory papillomatosis, juvenile recurrent
RS1597459077 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, ANKRD11-related disorder
RS1597459152 ANKRD11 Health Risk Pathogenic —
RS1597459649 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1597459998 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS1597460246 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1597460545 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1597461100 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, KBG syndrome
RS1597461334 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1597462279 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS1597462672 ADGRG1 Health Risk Likely pathogenic —
RS1597463562 ANKRD11 Health Risk Pathogenic —
RS1597464360 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1597464953 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, Inborn genetic diseases
RS1597465118 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1597465419 ANKRD11 Health Risk Pathogenic/Likely pathogenic —
RS1597471063 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS1597472411 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS1597477691 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1597482824 MYH3 Health Risk Likely pathogenic Arthrogryposis, distal
RS1597483539 MYH3 Health Risk Pathogenic/Likely pathogenic Contractures, pterygia
RS1597483678 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS1597488038 MYH3 Health Risk Pathogenic Freeman-Sheldon syndrome, Arthrogryposis
RS1597488212 MYH3 Health Risk Pathogenic Spondylocarpotarsal fusion syndrome 1A, Spondylocarpotarsal fusion syndrome 1A
RS1597490381 MYH3 Health Risk Likely pathogenic Arthrogryposis, distal
RS1597506544 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597506547 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1597506641 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1597506811 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
RS1597506905 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597506931 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597507712 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597507763 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597507783 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597509607 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597509631 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597509674 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597509701 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597509836 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597512576 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Myopathy
RS1597512600 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597512636 FBN1 Health Risk Likely pathogenic Abnormality of connective tissue, Abnormality of connective tissue
RS1597512652 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597512677 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1597513319 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1597513323 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
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