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
RS1686177024 ITGA6 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS16861801 MASP1 Health Risk Conflicting classifications of pathogenicity 3MC syndrome 1, MASP1-related disorder
RS1686193080 LRP2 Health Risk Likely pathogenic —
RS1686209873 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1686210975 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS1686375136 LRP2 Health Risk Likely pathogenic —
RS1686383386 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1686426425 AGPS Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS1686427549 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS1686492794 ATF6 Health Risk Likely pathogenic —
RS1686505064 GPX4 Health Risk Likely pathogenic —
RS1686551975 TTC21B Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS1686562488 HIBCH Health Risk Pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS1686661157 EXOC8 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS1686687362 KYNU Health Risk Likely pathogenic —
RS1686753674 ITGA6 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 6
RS1686756273 NR4A2 Health Risk Likely pathogenic Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
RS1686809735 TTC21B Health Risk Pathogenic Nephronophthisis 12, Nephronophthisis 12
RS1686811023 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS1686814382 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS1686821540 NR4A2 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1686838527 TTC21B Health Risk Likely pathogenic Nephronophthisis 12, Nephronophthisis 12
RS16869016 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1686926761 ITGA6 Health Risk Likely pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS1686972152 TTC21B Health Risk Likely pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS1686989669 RPL5 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1686990557 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1686990676 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1686991727 RPL5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1687002124 DIPK1A;RPL5 Health Risk Pathogenic —
RS1687004626 RPL5 Health Risk Likely pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS1687054029 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS1687057544 NLRC4 Health Risk Pathogenic Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS1687102215 LRP2 Health Risk Likely pathogenic —
RS1687120632 RPL5;DIPK1A Health Risk Pathogenic —
RS1687123286 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS1687164164 CALM2 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 1
RS1687178005 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1687210 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS1687223389 TMEM237 Health Risk Pathogenic Joubert syndrome 14, Joubert syndrome 14
RS1687252 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1687295837 ITGA4;CERKL Health Risk Likely pathogenic —
RS1687367661 CERKL Health Risk Pathogenic —
RS1687461276 HECW2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1687461391 HECW2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1687461840 HECW2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1687511235 SATB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1687511465 SATB2 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1687515795 SATB2 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1687516101 SATB2 Health Risk Likely pathogenic —
RS1687571331 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1687613797 HECW2 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1687613913 HECW2 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1687614121 HECW2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1687615194 LRP2 Health Risk Pathogenic/Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1687649007 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1687663690 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS1687693219 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1687748823 TET3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1687767627 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS1687790149 CERKL Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS1687796533 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1687797608 CERKL Health Risk Pathogenic —
RS1687798117 CERKL Health Risk Pathogenic —
RS1687828601 HECW2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1687838639 CERKL Health Risk Pathogenic —
RS1687843772 LRP2 Health Risk Likely pathogenic —
RS1687845450 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1687854945 CERKL Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1687957552 SATB2 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1687958384 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1687959221 SCN3A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 62
RS1687959307 SATB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1688010642 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS1688012992 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1688050712 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS1688068423 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS1688078187 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688079577 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1688101794 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1688101934 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1688103803 SATB2 Health Risk Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1688103993 SATB2 Health Risk Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1688106559 SATB2 Health Risk Pathogenic —
RS1688108235 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1688108689 SATB2 Health Risk Pathogenic/Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1688108762 SATB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS16881446 HS3ST1 Health Risk risk factor Arteriosclerosis disorder, Coronary artery disorder
RS1688188231 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1688203788 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688218776 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS1688231067 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688231158 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688243975 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1688249384 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688258933 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688259777 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS1688268302 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1688273707 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1688274077 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
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