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
RS149389480 F5 Health Risk Conflicting classifications of pathogenicity Congenital factor V deficiency, Congenital factor V deficiency
RS149389568 COL9A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149389913 TCF20 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases
RS149390820 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS149390911 NOD2 Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 1, Autoinflammatory syndrome
RS149391489 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS149391616 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS149392243 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS149392444 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149393179 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS149393698 SPART Health Risk Conflicting classifications of pathogenicity Troyer syndrome, Hereditary spastic paraplegia
RS149394378 SMARCA2 Health Risk Conflicting classifications of pathogenicity Coffin Siris/Intellectual Disability, Inborn genetic diseases
RS149394798 ESX1 Health Risk Conflicting classifications of pathogenicity —
RS149397534 EXO1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, EXO1-related disorder
RS149397714 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS149398610 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS149399418 SCN11A Health Risk Conflicting classifications of pathogenicity Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7
RS149399432 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS149399503 ECHS1 Health Risk Conflicting classifications of pathogenicity ECHS1-related disorder, ECHS1-related disorder
RS149399707 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, ABCA12-related disorder
RS149401968 SNCA Health Risk Conflicting classifications of pathogenicity Lewy body dementia, Autosomal dominant Parkinson disease 1
RS149402748 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149403312 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Marfan syndrome
RS149403824 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder
RS149403911 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS149404477 GFAP Health Risk Pathogenic —
RS149405304 ERF Health Risk Conflicting classifications of pathogenicity TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS149407396 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, CHRNA4-related disorder
RS149407452 MTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS149408006 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS149408243 VCAN Health Risk Conflicting classifications of pathogenicity VCAN-related disorder, Inborn genetic diseases
RS149411090 DOCK2 Health Risk Conflicting classifications of pathogenicity DOCK2 deficiency, DOCK2 deficiency
RS149412531 BSCL2 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS149412997 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin
RS149413147 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS149414160 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, ALDH4A1-related disorder
RS149415202 ARHGAP24 Health Risk Conflicting classifications of pathogenicity —
RS149415204 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS149416707 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149416779 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149416995 CACNA1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149417061 TSEN2 Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS149417595 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149417802 IGF1R Health Risk Conflicting classifications of pathogenicity —
RS149418765 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Sitosterolemia
RS149419129 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, EPB42-related disorder
RS149419694 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS149419718 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Osteogenesis imperfecta
RS149420127 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS149420497 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS149421007 GNAT2 Health Risk Conflicting classifications of pathogenicity Achromatopsia 4, Inborn genetic diseases
RS149423815 NOP14 Health Risk Conflicting classifications of pathogenicity —
RS149424724 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, von Willebrand disease type 1
RS149425237 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS149425324 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS149426277 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
RS149426644 RNASET2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149427101 SON Health Risk Conflicting classifications of pathogenicity —
RS149427669 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS149427926 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS149428656 DMD Health Risk Conflicting classifications of pathogenicity Becker muscular dystrophy, Duchenne muscular dystrophy
RS149428762 TNNC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13
RS149430070 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Duane-radial ray syndrome
RS149430073 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS149430216 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 24, Meckel syndrome
RS149430473 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS149430564 GHSR Health Risk Conflicting classifications of pathogenicity Short stature due to growth hormone secretagogue receptor deficiency, Short stature due to growth hormone secretagogue receptor deficiency
RS149431376 WDR62 Health Risk Conflicting classifications of pathogenicity WDR62-related disorder, WDR62-related disorder
RS149432620 RIPK1 Health Risk Conflicting classifications of pathogenicity Autoinflammation with episodic fever and lymphadenopathy, Inborn genetic diseases
RS149432908 ALB Health Risk Conflicting classifications of pathogenicity Hyperthyroxinemia, familial dysalbuminemic
RS149433149 PDZD2 Health Risk Conflicting classifications of pathogenicity —
RS149433837 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS149434153 WIPF1 Health Risk Conflicting classifications of pathogenicity Wiskott-Aldrich syndrome 2, WIPF1-related disorder
RS149434820 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella-like renal disease
RS149435515 HUWE1 Health Risk Conflicting classifications of pathogenicity HUWE1-related disorder, HUWE1-related disorder
RS149435806 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS149436446 SLC38A8 Health Risk Likely pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS149436907 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
RS149437745 HERC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149439295 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, PIGO-related disorder
RS149439730 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS149440666 DLAT Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS149441561 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS149441716 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS149443777 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS149444043 CEBPE Health Risk Conflicting classifications of pathogenicity Specific granule deficiency, Specific granule deficiency 1
RS149444442 MAP3K7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149444716 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS149447388 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS149447433 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS149447856 SLC7A3 Health Risk Conflicting classifications of pathogenicity SLC7A3-related disorder, SLC7A3-related disorder
RS149449115 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS149449207 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Hereditary cancer-predisposing syndrome
RS149449510 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS149449576 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS149449923 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS149451070 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149451089 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS149451729 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS149452082 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
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