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
RS770946823 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS770947195 STUB1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
RS770947426 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS770947623 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS770947700 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS770949848 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS770950831 DGUOK Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DGUOK-related disorder
RS770950993 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS770951811 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, CNTNAP2-related disorder
RS770951883 PMPCB Health Risk Likely pathogenic PMPCB-related ataxia, Lung cancer
RS770954294 SMPD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770955344 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS770956016 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS770956153 LY9 Health Risk risk factor Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children
RS770956514 ITPA Health Risk Pathogenic Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
RS770957462 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS770958025 KAT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Genitopatellar syndrome
RS770961534 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS770961582 WNK1 Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS770961747 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS770962157 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS770962447 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS770965402 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS770966136 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Intellectual disability
RS770966197 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS770966290 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS770966534 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS770966935 DLL3 Health Risk Pathogenic —
RS770967343 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS770968991 WBP2 Health Risk Likely pathogenic Hearing loss, autosomal recessive 107
RS770970441 FLG Health Risk Pathogenic —
RS770970810 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS770971338 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS770971683 TUBGCP6 Health Risk Likely pathogenic —
RS770971891 CEP152 Health Risk Likely pathogenic —
RS770972612 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS770974858 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS770975422 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS770976457 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS770977819 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS770978212 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS770980369 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS770981667 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS770981773 PNPO Health Risk Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS770981889 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 2
RS770982909 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS770984400 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS770984647 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS770984846 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS770985198 ZAP70 Health Risk Pathogenic Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS770986138 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS770986654 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS770987150 DOK7 Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS770987711 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS770988111 HBA1 Health Risk Likely pathogenic alpha Thalassemia, alpha Thalassemia
RS770988738 TYRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770989077 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS770989376 KIZ Health Risk Pathogenic —
RS770990008 POC1A Health Risk Pathogenic Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
RS770990177 COX11 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 23
RS770991317 MYO15A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS770992223 SMOC2 Health Risk Likely pathogenic —
RS770992241 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS770992427 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS770993581 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS770995623 PCNT Health Risk Pathogenic —
RS770995792 CDC14A Health Risk Pathogenic —
RS770996884 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS770997582 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS770999001 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771000002 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771000156 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS771000169 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS771000673 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS771000800 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS771001164 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Neoplasm
RS771001575 RTTN Health Risk Pathogenic —
RS771002170 TTN Health Risk Conflicting classifications of pathogenicity —
RS771002296 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS771002573 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS771002611 SBF1 Health Risk Pathogenic —
RS771002652 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS771002870 CDH23 Health Risk Likely pathogenic —
RS771003300 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS771004504 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771004767 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS771005018 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS771006240 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS771006818 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771007568 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Inborn genetic diseases
RS771007866 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCB-related disorder
RS771007945 RAD51D Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS771008563 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS771008873 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS771012029 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS77101217 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS771012835 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS771012891 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS771013055 RNASEH2C Health Risk Likely pathogenic —
RS771013783 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
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