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
RS1555527341 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS1555527450 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555527464 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555527495 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555527497 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555527511 ANKRD11 Health Risk Pathogenic —
RS1555527513 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555527532 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555527732 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555527741 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555527743 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS1555527745 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555527806 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555527877 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Malignant lymphoma
RS1555527907 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555527929 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS1555528040 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555528181 ACADVL Health Risk Likely pathogenic —
RS1555528188 ACADVL Health Risk Likely pathogenic —
RS1555528265 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555528304 ACADVL Health Risk Pathogenic/Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555528354 ANKRD11 Health Risk Pathogenic KBG syndrome, ANKRD11-related disorder
RS1555528356 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS1555528357 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555528367 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555528386 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555528400 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1555528508 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555528558 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555528635 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555528717 ANKRD11 Health Risk Pathogenic —
RS1555528719 ANKRD11 Health Risk Pathogenic —
RS1555528737 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555528745 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555528804 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555528937 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555529004 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555529044 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555529048 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555529052 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555529181 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1555529204 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1555529297 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555529364 ANKRD11 Health Risk Pathogenic —
RS1555529551 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1555529572 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555529645 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, KBG syndrome
RS1555529726 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, KBG syndrome
RS1555529734 ANKRD11 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, KBG syndrome
RS1555529864 ANKRD11 Health Risk Pathogenic —
RS1555529979 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS1555530022 MAF Health Risk Pathogenic Cataract 21 multiple types, Ayme-Gripp syndrome
RS1555530054 MAF Health Risk Pathogenic —
RS1555530080 MAF Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555530173 ANKRD11 Health Risk Pathogenic —
RS1555530551 TTC19 Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS1555531276 FOXC2 Health Risk Pathogenic —
RS1555531314 ANKRD11 Health Risk Pathogenic —
RS1555531333 FOXC2 Health Risk Pathogenic —
RS1555531360 FOXC2 Health Risk Pathogenic —
RS1555531363 KIAA0753 Health Risk Pathogenic Short-rib thoracic dysplasia 21 without polydactyly, Joubert syndrome
RS1555531387 FOXC2 Health Risk Likely pathogenic —
RS1555531390 ANKRD11 Health Risk Pathogenic —
RS1555532483 C1QBP Health Risk Pathogenic Combined oxidative phosphorylation deficiency 33, Combined oxidative phosphorylation deficiency 33
RS1555532484 C1QBP Health Risk Pathogenic Combined oxidative phosphorylation deficiency 33, Combined oxidative phosphorylation deficiency 33
RS1555532943 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555532944 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555532946 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555532979 WWOX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 28
RS1555533265 NF1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1555533268 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555533284 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533285 NF1 Health Risk Pathogenic Neurofibroma, Cafe au lait spots
RS1555533288 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555533290 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533292 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533297 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533300 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555533305 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555533307 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555533313 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555533323 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533326 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533336 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533338 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555533342 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555533347 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555533351 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533354 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533359 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555533363 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555533366 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533368 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533382 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555533393 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555533395 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555533409 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1555533416 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555533541 ALDH3A2 Health Risk Pathogenic —
RS1555533543 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
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