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
RS1203304646 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1203346034 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS1203359315 MTOR Health Risk Conflicting classifications of pathogenicity —
RS1203365063 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1203369669 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS1203370819 LCA5 Health Risk Pathogenic —
RS1203386884 CRYBB3 Health Risk Conflicting classifications of pathogenicity Cataract 22 multiple types, Cataract 22 multiple types
RS1203392889 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1203407896 DYNC2I1 Health Risk Pathogenic Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly
RS1203408796 SLFN11 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS1203447654 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1203452929 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1203462814 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1203487591 TRMT1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 68
RS1203493016 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1203515094 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1203528953 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS1203538648 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS1203541600 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1203548373 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1203553546 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1203557575 SLC5A1 Health Risk Likely pathogenic SLC5A1-related disorder, Congenital glucose-galactose malabsorption
RS1203559610 ACAD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1203564054 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS1203574273 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1203595744 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1203598816 COLQ Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS1203658633 TPK1 Health Risk Likely pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS1203659423 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1203702127 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1203706188 COL7A1 Health Risk Pathogenic 7 conditions, Epidermolysis bullosa dystrophica
RS1203718709 FLG Health Risk Pathogenic —
RS1203741361 FKTN Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X
RS1203751352 KIAA0586 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS1203763812 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1203766600 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Rapadilino syndrome
RS1203779981 TBXAS1 Health Risk Likely pathogenic Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS1203795810 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1203807404 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1203847698 FREM2 Health Risk Pathogenic —
RS1203870702 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS1203870830 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS1203876038 SLC25A11 Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6
RS1203876644 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1203883572 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1203886148 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1203908646 PRPH2 Health Risk Pathogenic Patterned macular dystrophy 1, PRPH2-related disorder
RS1203908934 DSG1 Health Risk Likely pathogenic DSG1-related disorder, DSG1-related disorder
RS1203921376 CA2 Health Risk Likely pathogenic Osteopetrosis with renal tubular acidosis, Neurodevelopmental delay
RS1203948201 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1203983920 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS1203994251 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1203995886 POC1A Health Risk Pathogenic/Likely pathogenic Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
RS1204002507 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1204010423 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1204013415 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1204021010 SMCHD1 Health Risk Likely pathogenic Scapulohumeral muscular dystrophy, Scapulohumeral muscular dystrophy
RS1204023432 RPE65 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS1204040319 CDH23 Health Risk Pathogenic Pituitary adenoma 5, multiple types
RS1204045237 EPM2A Health Risk Pathogenic Progressive myoclonic epilepsy, Lafora disease
RS1204063782 GALNT3 Health Risk Pathogenic/Likely pathogenic Tumoral calcinosis, hyperphosphatemic
RS1204073957 RPGRIP1L Health Risk Conflicting classifications of pathogenicity COACH syndrome 1, Meckel-Gruber syndrome
RS1204076551 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1204079767 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1204091534 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1204097562 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1204126024 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1204130200 AK9 Health Risk Pathogenic Spermatogenic failure 89, Spermatogenic failure 89
RS1204169977 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 35
RS1204171410 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS1204190984 HADHA Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS12042 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1204230457 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome 3b, autosomal recessive
RS1204244672 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity —
RS1204245665 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1204269313 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1204316787 DGUOK Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DGUOK-related disorder
RS1204319733 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS1204333387 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1204340475 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Basal cell carcinoma
RS1204363918 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 8
RS1204369578 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1204379654 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1204392134 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1204397173 NOTCH1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Adams-Oliver syndrome 5
RS1204420316 ALG11 Health Risk Likely pathogenic ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS1204470176 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1204470864 ADGRV1 Health Risk Likely pathogenic —
RS1204482456 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Neurodevelopmental disorder
RS1204485789 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1204500829 CDH23 Health Risk Likely pathogenic Usher syndrome type 1, Pituitary adenoma 5
RS1204501099 PISD Health Risk Likely pathogenic —
RS1204507146 KCNQ5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 46
RS1204519015 KCNQ3 Health Risk Pathogenic/Likely pathogenic Benign neonatal seizures, Seizures
RS1204521684 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1204528532 GMPPB Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS1204536261 FLNC Health Risk Pathogenic Primary dilated cardiomyopathy, Distal myopathy with posterior leg and anterior hand involvement
RS1204544455 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1204571302 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS1204584108 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
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