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
RS2143112489 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143112826 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143112940 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
RS2143113218 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143113297 NAGLU Health Risk Likely pathogenic Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis
RS2143113385 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143113460 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143113566 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2143113586 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143113595 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143113675 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143113857 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2143116788 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2143116895 QRICH2 Health Risk Likely pathogenic —
RS2143128062 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143128346 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143128666 GCGR Health Risk Pathogenic GCGR-related hyperglucagonemia, GCGR-related hyperglucagonemia
RS2143129755 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143129828 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143129998 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143130130 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143130756 KRT10 Health Risk Pathogenic Congenital reticular ichthyosiform erythroderma, Congenital reticular ichthyosiform erythroderma
RS2143131560 KRT10 Health Risk Likely pathogenic Congenital reticular ichthyosiform erythroderma, Congenital reticular ichthyosiform erythroderma
RS2143133343 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia
RS2143133455 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143133654 KRT10 Health Risk Pathogenic Congenital reticular ichthyosiform erythroderma, Congenital reticular ichthyosiform erythroderma
RS2143133897 KRT10 Health Risk Pathogenic/Likely pathogenic —
RS2143137428 LPIN2 Health Risk Likely pathogenic Majeed syndrome, Majeed syndrome
RS2143137762 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143138089 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
RS2143138138 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143138162 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143138190 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143138507 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2143138748 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143138814 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143139061 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143139166 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143139284 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143139374 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2143139861 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143140176 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143140372 PRCD Health Risk Pathogenic —
RS2143144314 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143144491 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143144854 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143144912 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143144971 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143145870 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2143145948 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143148184 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS2143150614 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143150768 KRT10 Health Risk Likely pathogenic Congenital reticular ichthyosiform erythroderma, Annular epidermolytic ichthyosis
RS2143150923 KRT10 Health Risk Likely pathogenic —
RS2143151469 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2143155004 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143158065 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143163210 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS2143163267 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143163813 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143165387 AFG3L2 Health Risk Pathogenic Spinocerebellar ataxia type 28, Optic atrophy 12
RS2143171389 AFG3L2 Health Risk Likely pathogenic Optic atrophy 12, Optic atrophy 12
RS2143171648 AFG3L2 Health Risk Conflicting classifications of pathogenicity —
RS2143182200 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143184326 FOXF1 Health Risk Pathogenic —
RS2143184507 FOXF1 Health Risk Likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS2143184846 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS2143184995 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143186824 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS2143186831 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS2143187004 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS2143187074 FOXF1 Health Risk Pathogenic/Likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS2143196334 AFG3L2 Health Risk Pathogenic Spastic ataxia 5, Spastic ataxia 5
RS2143196984 COASY Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation, Neurodegeneration with brain iron accumulation
RS2143213381 SMCHD1 Health Risk Pathogenic —
RS2143214372 SMCHD1 Health Risk Pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2143225807 FANCA Health Risk Likely pathogenic See cases, See cases
RS2143233837 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143236734 SOX9 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS2143237315 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143238589 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143239047 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143239754 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143239847 SOX9 Health Risk Likely pathogenic SOX9-related disorder, SOX9-related disorder
RS2143239964 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143239984 SOX9 Health Risk Likely pathogenic —
RS2143240089 SOX9 Health Risk Likely pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143240113 SOX9 Health Risk Likely pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143240178 SOX9 Health Risk Likely pathogenic —
RS2143240377 SOX9 Health Risk Likely pathogenic Bent bone dysplasia, Bent bone dysplasia
RS2143240394 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, Camptomelic dysplasia
RS2143240579 SOX9 Health Risk Likely pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143240666 SOX9 Health Risk Pathogenic —
RS2143241065 SOX9 Health Risk Likely pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143241656 SMCHD1 Health Risk Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143245214 SOX9 Health Risk Pathogenic/Likely pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143245422 SOX9 Health Risk Pathogenic/Likely pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143246033 SOX9 Health Risk Likely pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143246628 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143247260 SOX9 Health Risk Likely pathogenic —
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