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
RS760236532 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS760237464 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS760237737 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760237820 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS760238524 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS760239741 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS760242 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS760243208 SDHC Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS76024428 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Retinitis pigmentosa
RS760246258 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS760247833 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS760249153 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS760250655 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS760251231 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS760251812 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS76025186 CYP26B1 Health Risk Conflicting classifications of pathogenicity CYP26B1-related disorder, CYP26B1-related disorder
RS760251968 MYO7A Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1
RS760253167 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS760253448 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS760253622 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS760254039 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS760254122 EIF2B5 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5
RS760255146 APOA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypoalphalipoproteinemia
RS760255368 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Encephalopathy
RS760255753 MYO3A Health Risk Pathogenic MYO3A-related disorder, MYO3A-related disorder
RS760255764 RPS26 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 10, Diamond-Blackfan anemia
RS760255783 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS760256377 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS760256450 FMO3 Health Risk Likely pathogenic —
RS760256639 FERMT1 Health Risk Conflicting classifications of pathogenicity Kindler syndrome, Kindler syndrome
RS760256649 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS760256766 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS760256854 CTNS Health Risk Pathogenic Nephropathic cystinosis, Ocular cystinosis
RS760257918 PHKG2 Health Risk Likely pathogenic Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXc
RS760258010 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS760258050 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS760258217 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS760259531 VLDLR Health Risk Pathogenic —
RS760260706 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS760260903 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS760261220 RAD21 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 4, Intellectual disability
RS760261349 FERMT3 Health Risk Likely pathogenic Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
RS760261440 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS760261757 WHRN Health Risk Pathogenic Usher syndrome type 2D, Usher syndrome type 2D
RS760262127 MED23 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 18
RS760262916 DNAAF4 Health Risk Pathogenic —
RS760263014 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS760263168 CRELD1 Health Risk Pathogenic Ventricular septal defect 1, Ventricular septal defect 1
RS760264695 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS760264924 SLC7A9 Health Risk Pathogenic Cystine urolithiasis, Cystine urolithiasis
RS760265069 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS760265100 PMM2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, PMM2-congenital disorder of glycosylation
RS760265207 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS760265361 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS760266416 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS760266828 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS760267963 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS760270633 DNM1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 31A
RS760270839 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS760271120 CLN6 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS760271887 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS760272063 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS760272692 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS760273611 MITF Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS760275251 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS760275528 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS760275837 CYBA Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS760277241 BCL11B Health Risk Conflicting classifications of pathogenicity BCL11B-related disorder, BCL11B-related disorder
RS760277934 C1R Health Risk Pathogenic Ehlers-Danlos syndrome, periodontal type 1
RS760278126 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Autosomal recessive nonsyndromic hearing loss 97
RS760279999 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS760280308 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS760280521 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, CCDC78-related disorder
RS760280615 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS760280924 SKIC2 Health Risk Likely pathogenic —
RS760281019 MPV17 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
RS760281341 VWA1 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS760281672 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS760281820 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS760283589 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS760283610 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 1
RS760284465 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS760285250 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS760285654 NPR2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS760285673 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS760285693 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS760285767 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS760285831 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2, Usher syndrome type 2
RS760286141 DNAH14 Health Risk Conflicting classifications of pathogenicity —
RS760286647 LOXHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760286714 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS760287363 CRB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 12
RS760287778 CACNA1E Health Risk Conflicting classifications of pathogenicity CACNA1E-related disorder, CACNA1E-related disorder
RS760288753 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS760288938 DCLRE1C Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS760289964 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS760290078 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Malignant tumor of urinary bladder
RS760290195 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS760291471 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS760291695 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
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