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
RS142164891 SLC25A4 Health Risk Conflicting classifications of pathogenicity SLC25A4-related disorder, SLC25A4-related disorder
RS142166154 APPL1 Health Risk Conflicting classifications of pathogenicity —
RS1421664374 MKKS Health Risk Pathogenic McKusick-Kaufman syndrome, Bardet-Biedl syndrome
RS142166552 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1421665944 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS142168544 ESRP2 Health Risk Likely pathogenic Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
RS142168567 COL2A1 Health Risk Conflicting classifications of pathogenicity COL2A1-related disorder, COL2A1-related disorder
RS1421685722 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS142169651 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1421696563 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS142169707 TTLL5 Health Risk Conflicting classifications of pathogenicity —
RS142169776 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, Inborn genetic diseases
RS1421700682 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1421702106 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS142170797 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS1421708361 DYNC1H1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1421713385 ADAMTS17 Health Risk Pathogenic —
RS1421717737 CDKN1B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS142172397 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Pseudo-Hurler polydystrophy
RS1421729263 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS142173735 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS142174851 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS1421761057 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS142176273 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS142176861 AGPAT2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1, Inborn genetic diseases
RS142176915 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1421791559 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS142179277 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS142180002 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS142180051 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores
RS142181559 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases
RS142181803 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS142182110 CA5A Health Risk Conflicting classifications of pathogenicity Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Inborn genetic diseases
RS142182789 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS1421841663 ASAH1 Health Risk Pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS142184249 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS142184584 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS1421854019 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS142185964 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, FBN2-related disorder
RS142186404 CD36 Health Risk Pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS1421866281 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS142186742 CLCN7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142187604 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS142187896 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS142188133 NR5A1 Health Risk Conflicting classifications of pathogenicity NR5A1-related disorder, Oligosynaptic infertility
RS1421884058 ESCO2 Health Risk Conflicting classifications of pathogenicity Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
RS142189122 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS142189908 PRMT9 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS1421902848 CEP152 Health Risk Pathogenic —
RS1421904176 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS142190930 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS142191737 LMNA Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, Charcot-Marie-Tooth disease type 2
RS1421920938 RTTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142192097 PIGV Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 1, PIGV-related disorder
RS1421926305 HPS3 Health Risk Pathogenic —
RS142194146 TACC2 Health Risk Conflicting classifications of pathogenicity —
RS1421950903 LZTR1 Health Risk Conflicting classifications of pathogenicity —
RS142196126 MYBBP1A Health Risk Conflicting classifications of pathogenicity —
RS1421964916 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1421966486 ATP1A2 Health Risk Likely pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS1421967825 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS142196906 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Inborn genetic diseases
RS1421971452 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS142197545 ITGB6 Health Risk Conflicting classifications of pathogenicity —
RS1421988285 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS142199303 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS142199602 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS142202442 CRX;TPRX2 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS142203271 CSF2RA Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS142203302 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS142203439 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS142203806 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1422043936 GYS1 Health Risk Likely pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS142204928 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS142205392 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS1422054832 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS1422055326 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS142205703 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142205728 SI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142205860 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS142206385 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1422071853 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1422073677 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS142207711 AGPAT2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1, AGPAT2-related disorder
RS142208422 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS142209254 AP4B1 Health Risk Pathogenic Inborn genetic diseases, Spastic paraplegia
RS142209394 PGAM2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type X, PGAM2-related disorder
RS142210216 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS142210499 RBP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1422115423 CTSC Health Risk Conflicting classifications of pathogenicity Periodontitis, aggressive 1
RS142211558 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS1422121082 TPP1 Health Risk Pathogenic —
RS142213147 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, DHCR7-related disorder
RS142213379 SMAD9 Health Risk Conflicting classifications of pathogenicity Pulmonary arterial hypertension associated with congenital heart disease, Pulmonary hypertension
RS142213474 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12
RS142214506 ASPM Health Risk Conflicting classifications of pathogenicity —
RS142214608 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS142215198 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 51
RS1422155550 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS142215888 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
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