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
RS1454719802 HMGCS2 Health Risk Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS1454723706 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1454723879 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1454725137 MAP3K1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, 46
RS145472959 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS145473716 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS145473779 NUP93 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 12
RS145473829 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS145474800 CARD11 Health Risk Likely pathogenic Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS145474829 HDAC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1454748709 HCN4 Health Risk Pathogenic/Likely pathogenic Left ventricular noncompaction cardiomyopathy, Brugada syndrome 8
RS145475623 MBD5 Health Risk Conflicting classifications of pathogenicity MBD5 associated neurodevelopmental disorder, Intellectual disability
RS145475632 CLDN16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145476120 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS145476528 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS145476705 DSC2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS1454768655 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS145478892 TCTN1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 13, Joubert syndrome
RS145479430 SLC25A24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1454800167 PIEZO2 Health Risk Likely pathogenic —
RS1454804175 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS145481253 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases
RS1454813710 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145481393 COX4I2 Health Risk Conflicting classifications of pathogenicity Pancreatic insufficiency-anemia-hyperostosis syndrome, Pancreatic insufficiency-anemia-hyperostosis syndrome
RS145481980 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Inborn genetic diseases
RS145482271 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS145482605 ABCG8 Health Risk Conflicting classifications of pathogenicity ABCG8-related disorder, Cardiovascular phenotype
RS145483014 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS145483046 VAPB Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy
RS145483148 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS145483312 PRPF6 Health Risk Conflicting classifications of pathogenicity —
RS145483591 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS145484343 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS145484347 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS145484802 KMT2C Health Risk Conflicting classifications of pathogenicity —
RS1454859974 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS145486890 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS145486953 CASQ1 Health Risk Conflicting classifications of pathogenicity Myopathy due to calsequestrin and SERCA1 protein overload, Familial cancer of breast
RS1454869699 ODAD1 Health Risk Likely pathogenic Primary ciliary dyskinesia 20, Primary ciliary dyskinesia 20
RS145487261 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS145487328 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS1454874748 SLC27A4 Health Risk Likely pathogenic Ichthyosis prematurity syndrome, Lamellar ichthyosis
RS1454879222 NBAS Health Risk Likely pathogenic —
RS145489194 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS145489214 KIAA1549 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1454893360 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS145489428 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 26
RS145489987 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS1454908929 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS145491347 TACSTD2 Health Risk Conflicting classifications of pathogenicity Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
RS145492863 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS1454929812 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS145493619 PRICKLE1 Health Risk Conflicting classifications of pathogenicity Epilepsy, progressive myoclonic
RS145494248 HGF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 39, Autosomal recessive nonsyndromic hearing loss 39
RS145494541 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS145495027 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS145496413 PSAT1 Health Risk Conflicting classifications of pathogenicity PSAT deficiency, Neu-Laxova syndrome 2
RS145496449 SKIC3 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 1, SKIC3-related disorder
RS145497414 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1454977903 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS145498634 SLC52A3 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases
RS145498815 TNNI3K Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145499142 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS145499180 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Inborn genetic diseases
RS145499245 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1454994826 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS145499611 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS1454998189 LAMA3 Health Risk Pathogenic Epidermolysis bullosa, junctional 2B
RS1455006748 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS145500808 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1455013590 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS145501662 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS145501803 KRT9 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma, epidermolytic
RS1455019932 CTRC Health Risk Likely pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS1455020789 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS145502142 UNC45A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1455026782 LAMB3 Health Risk Pathogenic —
RS145502954 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases
RS145503551 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 13
RS145503941 ZNF423 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 14, ZNF423-related disorder
RS145504843 LARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145505271 DNAH17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1455058410 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS145506099 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS145506280 SPECC1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Oculomaxillofacial dysostosis
RS1455074519 AURKA Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS145507464 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS1455078314 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS145507832 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS1455080825 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS145508517 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS1455085342 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS145508748 PLOD3 Health Risk Conflicting classifications of pathogenicity Hemorrhage, intracerebral
RS1455092335 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS145509273 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS1455096561 RAD51C Health Risk Likely pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS145509776 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, BRAT1-related disorder
RS1455105815 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS145510974 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS1455126476 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Dent disease type 2
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