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
RS148591757 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, RBP3-related disorder
RS148591984 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Mycobacterium tuberculosis
RS148592148 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS148592158 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS148592275 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome
RS1485943190 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS148594393 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS148594615 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS148595463 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS148595483 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores
RS1485955306 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS148596328 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS148597698 PNPO Health Risk Pathogenic/Likely pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS1485978447 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS148598272 PSAT1 Health Risk Pathogenic PSAT deficiency, Neu-Laxova syndrome 2
RS148598583 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS148598779 FBN2 Health Risk Conflicting classifications of pathogenicity Macular degeneration, early-onset
RS1485998372 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS148600708 STS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked ichthyosis with steryl-sulfatase deficiency
RS1486008175 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148600818 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS148601288 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia
RS148601529 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1486021166 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148603197 ADCY10 Health Risk Conflicting classifications of pathogenicity Familial idiopathic hypercalciuria, Familial idiopathic hypercalciuria
RS1486032156 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS148603249 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS148603551 SAMD9 Health Risk Conflicting classifications of pathogenicity SAMD9-related disorder, SAMD9-related disorder
RS1486035598 IARS1 Health Risk Pathogenic —
RS148603803 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS148604002 AUTS2 Health Risk Conflicting classifications of pathogenicity AUTS2-related disorder, Intellectual disability
RS148604312 SETX Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Amyotrophic lateral sclerosis type 4
RS1486049191 GSS Health Risk Pathogenic/Likely pathogenic Glutathione synthetase deficiency without 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS148605410 DGKE Health Risk Pathogenic, low penetrance Hemolytic uremic syndrome, atypical
RS1486054986 NCAPD2 Health Risk Pathogenic —
RS148606479 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS148606857 SLC35C1 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency type II, Inborn genetic diseases
RS148606936 FLG Health Risk Pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS148607670 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS1486082302 ASXL1 Health Risk Pathogenic —
RS148608404 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS148609447 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS1486094843 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS148609725 AMOT Health Risk Conflicting classifications of pathogenicity —
RS148609833 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Medulloblastoma
RS1486107465 MTTP Health Risk Pathogenic —
RS1486109432 CDHR1 Health Risk Pathogenic —
RS148611356 CTSF Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases
RS148611524 MRNIP;SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 3, Paget disease of bone 3
RS148611855 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1486129583 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, TTN-related myopathy
RS1486131108 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS148613210 NOTCH2 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS148613242 NUP205 Health Risk Conflicting classifications of pathogenicity NUP205-related disorder, NUP205-related disorder
RS148613404 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1486136461 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1486137817 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS148613811 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Inborn genetic diseases
RS148613877 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1486141784 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, 7 conditions
RS148614326 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS1486146333 TPM2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS148615170 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1486155993 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS148615663 SLC34A1 Health Risk Conflicting classifications of pathogenicity Fanconi renotubular syndrome 2, Hypophosphatemic nephrolithiasis/osteoporosis 1
RS148615988 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS148616219 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS148616345 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Retinal dystrophy
RS1486168292 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS148617088 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148617456 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS148617572 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS148618542 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS148618973 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS148619121 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS1486192402 POLE Health Risk Pathogenic —
RS148619631 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS1486197417 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS148619884 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS148619997 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1486200900 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS148620369 FARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 14, FARS2-related disorder
RS148620735 TOPORS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS1486214757 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS148621523 MYH11;NDE1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1486224265 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS148622840 LTBP1 Health Risk Conflicting classifications of pathogenicity —
RS148622862 RPS26 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia
RS148623263 VIPAS39 Health Risk Conflicting classifications of pathogenicity —
RS1486232846 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1486237562 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS148623862 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS1486240538 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1486243737 DNAH2 Health Risk Pathogenic Spermatogenic failure 45, Spermatogenic failure 45
RS148624854 FAM47C Health Risk Conflicting classifications of pathogenicity —
RS1486248764 CPT1C Health Risk Likely pathogenic —
RS148625172 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, Hecht syndrome
RS148625921 ROBO1 Health Risk Conflicting classifications of pathogenicity Heart, malformation of
RS148626062 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148626512 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Inborn genetic diseases
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