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
RS2143002331 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143002341 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143002345 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143002376 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143002383 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143002427 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143002428 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143002437 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143002451 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143002464 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143002473 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143002474 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143002950 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2143003068 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2143003540 RAI1 Health Risk Likely pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2143004580 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143004585 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143004592 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143004596 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143004624 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143004665 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143005067 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143005072 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143005083 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143005086 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143005452 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143005457 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143005467 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143005523 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143005530 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143006568 RAI1 Health Risk Likely pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2143008740 EIF5A Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2143008747 EIF5A Health Risk Likely pathogenic —
RS2143008762 EIF5A Health Risk Pathogenic Faundes-Banka syndrome, Faundes-Banka syndrome
RS2143009611 EIF5A Health Risk Pathogenic Faundes-Banka syndrome, Faundes-Banka syndrome
RS2143009613 EIF5A Health Risk Pathogenic/Likely pathogenic Faundes-Banka syndrome, Faundes-Banka syndrome
RS2143009616 EIF5A Health Risk Likely pathogenic —
RS2143010039 ORC6 Health Risk Pathogenic Meier-Gorlin syndrome 3, Meier-Gorlin syndrome 3
RS2143011578 NSRP1 Health Risk Pathogenic Neurodevelopmental disorder with spasticity, seizures
RS2143011593 NSRP1 Health Risk Pathogenic Microcephaly, Seizure
RS2143013401 SLC6A4 Health Risk Likely pathogenic Obsessive-compulsive disorder, Obsessive-compulsive disorder
RS2143013504 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143013538 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143013573 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143013681 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143048943 SMCHD1 Health Risk Pathogenic —
RS2143060935 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143061441 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143062233 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143068680 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143068731 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia 2, Glanzmann thrombasthenia 2
RS2143074939 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2143075344 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2143075470 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2143075651 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS2143075902 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2143076561 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2143076634 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2143076795 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2143077277 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2143082104 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2143082538 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2143086378 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2143086665 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2143086826 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2143086910 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2143087145 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2143088088 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2143088468 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143090512 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143092554 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143093355 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143096767 GNAL Health Risk Pathogenic Dystonic disorder, Dystonic disorder
RS2143096900 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143097031 GNAL Health Risk Pathogenic Dystonic disorder, Dystonic disorder
RS2143097053 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143097158 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143097219 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS2143097772 NAGLU Health Risk Pathogenic —
RS2143098907 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143098979 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143099180 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2143099209 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
RS2143099421 NAGLU Health Risk Likely pathogenic —
RS2143099555 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2143105830 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143106071 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143106211 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143106522 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143107081 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143107119 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143108019 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS2143108228 NAGLU Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2143109012 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143109078 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143109249 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143109259 NAGLU Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2143109467 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2143110493 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2143111795 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
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