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
RS111622724 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS111622737 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, BCOR-related disorder
RS111624565 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS111627162 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS111627256 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS111627309 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS111628497 APOC2 Health Risk Pathogenic APOLIPOPROTEIN C-II (HAMBURG), Familial apolipoprotein C-II deficiency
RS111630733 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS111631219 RPL13 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
RS111632017 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related disorder
RS111638537 NALCN Health Risk Conflicting classifications of pathogenicity NALCN-related disorder, NALCN-related disorder
RS111638717 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS111640560 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS111643041 AVPR2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS111645889 HBB Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN LA DESIRADE, Hb SS disease
RS111646204 CSF2RA Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS111649546 SLC39A8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS111652113 SALL2 Health Risk Conflicting classifications of pathogenicity —
RS111653839 LAMA5 Health Risk Conflicting classifications of pathogenicity Polymicrogyria, LAMA5-related disorder
RS111653895 SPECC1L Health Risk Pathogenic/Likely pathogenic Teebi hypertelorism syndrome, Teebi hypertelorism syndrome 1
RS111657177 PDE2A Health Risk Likely pathogenic Intellectual developmental disorder with paroxysmal dyskinesia or seizures, Intellectual developmental disorder with paroxysmal dyskinesia or seizures
RS111662392 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS111665475 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS111671429 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS111671438 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS111674454 SCN9A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 7
RS111674514 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS111677442 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS111678627 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS111683277 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Cardiovascular phenotype
RS111683745 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS111687029 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS111687884 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS111691891 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS111692981 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1D
RS111694017 SMO Health Risk Conflicting classifications of pathogenicity Uveal melanoma, Gastric cancer
RS111694258 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS111694746 ENG Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS11169525 DIP2B Health Risk Conflicting classifications of pathogenicity DIP2B-related disorder, DIP2B-related disorder
RS111697581 COL6A2 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS111703410 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS111706634 PJVK Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 59, Ear malformation
RS111706668 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS111709785 SERPING1 Health Risk Pathogenic —
RS111710113 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS11172102 STAT6 Health Risk Likely pathogenic Hyper-IgE syndrome 6, autosomal dominant
RS111722949 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS111723244 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease
RS111724246 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS111724706 LAMB3 Health Risk Likely pathogenic —
RS111725949 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS111727307 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Kidney disorder
RS111727915 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS111728477 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS111729952 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS111730406 PLEC Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5C
RS111733107 PITX2 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 1, Irido-corneo-trabecular dysgenesis
RS111733491 LRP2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS111734301 FLVCR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS111738042 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS111742810 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS111745868 STYXL2 Health Risk Conflicting classifications of pathogenicity —
RS111745899 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS111748421 SMAD9 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS111749768 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, EPHB4-related disorder
RS111750619 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS111754022 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS111758941 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS111759871 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12
RS111761143 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS111761637 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS111761880 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS111764111 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS111768745 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 13
RS111773340 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6
RS111773874 SLC35C1 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency type II, SLC35C1-related disorder
RS111775311 COL7A1 Health Risk Likely pathogenic —
RS111776176 GRIP1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, Fraser syndrome 3
RS111779557 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS111782778 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS111784356 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS111785152 AP4B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 47, Inborn genetic diseases
RS111785373 RBP4 Health Risk Likely pathogenic Abnormality of the eye, Abnormality of the eye
RS111787446 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS111790169 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS111796234 GNAS Health Risk Conflicting classifications of pathogenicity GNAS-related disorder, GNAS-related disorder
RS111799340 ACTA2 Health Risk Pathogenic Aortic aneurysm, familial thoracic 6
RS111803773 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS111806046 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder
RS111806457 FLNC Health Risk Likely pathogenic Cardiovascular phenotype, Cardiomyopathy
RS111812550 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS111812846 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS111832449 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS111833078 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS111833764 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS111834376 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS111834744 LHCGR Health Risk Conflicting classifications of pathogenicity Gonadotropin-independent familial sexual precocity, Gonadotropin-independent familial sexual precocity
RS111838442 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS111840209 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS111840783 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
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