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
RS2504425233 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504425268 TECPR2 Health Risk Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504432690 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504432999 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504433132 TECPR2 Health Risk Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504437253 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504446168 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504446531 TECPR2 Health Risk Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504446543 TECPR2 Health Risk Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504453043 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504453415 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504458939 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504459163 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504459355 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504476908 OTUD7A Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and seizures, Neurodevelopmental disorder with hypotonia and seizures
RS2504480471 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504480577 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504484068 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS2504488763 CEP152 Health Risk Pathogenic Microcephaly 9, primary
RS2504488840 CEP152 Health Risk Pathogenic —
RS2504489626 CEP152 Health Risk Pathogenic —
RS2504489983 PHF21A Health Risk Pathogenic Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
RS2504492104 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS2504492333 ATL1 Health Risk Likely pathogenic —
RS2504493603 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS2504493819 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS2504503924 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS2504510600 MAX Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2504523105 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504524056 EIF2AK4 Health Risk Pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS2504524090 RAD51 Health Risk Likely pathogenic Fanconi anemia complementation group R, Fanconi anemia complementation group R
RS2504531661 EIF2AK4 Health Risk Pathogenic —
RS2504532073 RAD51 Health Risk Likely pathogenic Fanconi anemia complementation group R, Fanconi anemia complementation group R
RS2504535639 MEIS2 Health Risk Pathogenic —
RS2504536056 MEIS2 Health Risk Likely pathogenic Cardiac malformation, cleft lip/palate
RS2504537554 EIF2AK4 Health Risk Likely pathogenic EIF2AK4-related disorder, EIF2AK4-related disorder
RS2504539104 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS2504539343 GCH1 Health Risk Likely pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS2504539350 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS2504539432 GCH1 Health Risk Likely pathogenic GTP cyclohydrolase I deficiency with hyperphenylalaninemia, GTP cyclohydrolase I deficiency with hyperphenylalaninemia
RS2504540200 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS2504540656 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2504541515 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS2504560447 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS2504560480 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS2504564381 EIF2AK4 Health Risk Likely pathogenic EIF2AK4-related disorder, EIF2AK4-related disorder
RS2504564383 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS2504567974 SLC24A5 Health Risk Pathogenic —
RS2504568018 SLC24A5 Health Risk Likely pathogenic —
RS2504569305 SLC24A5 Health Risk Pathogenic —
RS2504569936 EIF2AK4 Health Risk Pathogenic —
RS2504570367 CEP152 Health Risk Pathogenic —
RS2504572059 CEP152 Health Risk Likely pathogenic —
RS2504573137 EIF2AK4 Health Risk Likely pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS2504577269 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS2504577368 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS2504577780 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS2504578020 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS2504592443 SLC24A5 Health Risk Likely pathogenic —
RS2504595149 SLC24A5 Health Risk Likely pathogenic —
RS2504597755 SLC24A5 Health Risk Pathogenic Oculocutaneous albinism type 6, Oculocutaneous albinism type 6
RS2504598048 SLC24A5 Health Risk Pathogenic —
RS2504598589 CEP152 Health Risk Likely pathogenic —
RS2504600107 CEP152 Health Risk Pathogenic —
RS2504602075 CEP152 Health Risk Pathogenic/Likely pathogenic CEP152-related disorder, Microcephaly 9
RS2504607374 CEP152 Health Risk Pathogenic —
RS2504609565 EIF2AK4 Health Risk Pathogenic —
RS2504624158 ZMYM2 Health Risk Likely pathogenic —
RS2504627688 SLC24A5 Health Risk Pathogenic —
RS2504639204 EIF2AK4 Health Risk Pathogenic —
RS2504641181 CEP152 Health Risk Pathogenic —
RS2504642290 CEP152 Health Risk Pathogenic —
RS2504643899 AP4E1 Health Risk Likely pathogenic Developmental disorder, Developmental disorder
RS2504661616 CEP152 Health Risk Pathogenic —
RS2504662186 CEP152 Health Risk Pathogenic —
RS2504663889 CEP152 Health Risk Pathogenic —
RS2504664282 CEP152 Health Risk Likely pathogenic —
RS2504680805 SORD Health Risk Pathogenic —
RS2504691114 AP4E1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2504699867 CEP152 Health Risk Likely pathogenic —
RS2504700478 CEP152 Health Risk Pathogenic —
RS2504702178 SORD Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS2504713247 CEP152 Health Risk Likely pathogenic —
RS2504713538 CEP152 Health Risk Likely pathogenic Microcephaly 9, primary
RS2504718500 SORD Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2504721465 CEP152 Health Risk Pathogenic —
RS2504721725 CEP152 Health Risk Pathogenic —
RS2504721792 CEP152 Health Risk Likely pathogenic —
RS2504726611 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS2504728206 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS2504735219 DUOX2 Health Risk Likely pathogenic —
RS2504736239 DUOX2 Health Risk Pathogenic —
RS2504737520 DUOX2 Health Risk Pathogenic —
RS2504737542 DUOX2 Health Risk Pathogenic —
RS2504738840 DUOX2 Health Risk Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS2504740195 DUOX2 Health Risk Pathogenic —
RS2504740238 DUOX2 Health Risk Pathogenic —
RS2504740514 DUOX2 Health Risk Pathogenic —
RS2504740629 DUOX2 Health Risk Pathogenic —
RS2504743262 CEP152 Health Risk Pathogenic —
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