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
RS2522807898 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522808002 KDM6A Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2522808756 DNAAF6 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS2522808827 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522808874 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522811516 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2522812173 ESPN Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2522814526 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522814882 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS2522814914 SH2D1A Health Risk Likely pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS2522815020 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS2522816970 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522817085 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522817745 GNB1 Health Risk Pathogenic —
RS2522818191 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522818414 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522818894 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522818944 SH2D1A Health Risk Likely pathogenic —
RS2522819003 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS2522819045 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS2522819771 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2522819783 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2522819881 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522819978 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2522820086 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522820123 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2522820330 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522820794 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522820797 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522820995 FAAH Health Risk Likely pathogenic Polysubstance abuse, susceptibility to
RS2522822079 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522824447 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522824468 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2522824693 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2522826741 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522826772 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2522826850 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2522826859 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522827017 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522827076 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2522827131 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522827461 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522827904 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522828214 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522828488 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2522828917 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522831501 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522832906 BCORL1 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2522833971 KDM6A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2522834464 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522835100 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522835468 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522845145 OGT Health Risk Likely pathogenic —
RS2522845856 OGT Health Risk Likely pathogenic Intellectual disability, X-linked 106
RS2522849913 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522849935 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522850255 PHKA1 Health Risk Likely pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2522850390 PLOD1 Health Risk Likely pathogenic PLOD1-related disorder, Ehlers-Danlos syndrome
RS2522852329 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522852699 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522854199 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522854585 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522854600 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522854675 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522857207 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522857846 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS2522861951 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522862242 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522862314 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522866049 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522869732 OGT Health Risk Likely pathogenic Intellectual disability, X-linked 106
RS2522873347 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522874590 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2522874604 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522874923 PLOD1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2522875116 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522875121 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522875386 HUWE1 Health Risk Conflicting classifications of pathogenicity —
RS2522875756 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522876133 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522880559 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522881050 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS2522881217 DOCK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2522881802 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522882449 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522883183 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522884028 ESPN Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36
RS2522884710 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522884935 INTS11 Health Risk Pathogenic Neurodevelopmental disorder with motor and language delay, ocular defects
RS2522885017 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522893135 ST3GAL3 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2522894898 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2522897537 MTHFR Health Risk Likely pathogenic —
RS2522899174 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2522912867 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2522913310 UROD Health Risk Pathogenic —
RS2522913344 UROD Health Risk Likely pathogenic —
RS2522913357 UROD Health Risk Likely pathogenic Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS2522914398 ATP13A2 Health Risk Likely pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS2522915885 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
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