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
RS1438134533 KIZ Health Risk Pathogenic/Likely pathogenic —
RS1438135616 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1438138090 RAB23 Health Risk Pathogenic RAB23-related Carpenter syndrome, RAB23-related disorder
RS1438139434 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1438140067 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS143814221 GHR Health Risk Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect, 7 conditions
RS143814541 TSPEAR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TSPEAR-related disorder
RS143815159 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, AGL-related disorder
RS143815273 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS143815396 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS143815412 KIFBP Health Risk Conflicting classifications of pathogenicity Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS143815721 LRP2 Health Risk Conflicting classifications of pathogenicity LRP2-related disorder, Donnai-Barrow syndrome
RS143816093 WDR72 Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
RS1438162956 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1438163020 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS143816549 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS143816642 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Inborn genetic diseases
RS143817389 LAMC2 Health Risk Conflicting classifications of pathogenicity LAMC2-related disorder, Junctional epidermolysis bullosa gravis of Herlitz
RS143817493 SMAD9 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS143817570 NFKB1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS143817747 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS143817848 NLGN3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NLGN3-related disorder
RS143817941 RLBP1 Health Risk Conflicting classifications of pathogenicity Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy
RS1438181248 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS143818717 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS143818932 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, SALL4-related disorder
RS143819461 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS143819673 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS143819820 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group L
RS1438212286 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder
RS143821815 VARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 20, Inborn genetic diseases
RS1438223502 HTRA1 Health Risk Conflicting classifications of pathogenicity CARASIL syndrome, CARASIL syndrome
RS1438223626 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS143822500 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS1438226783 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS143822761 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS143822830 TNRC6A Health Risk Conflicting classifications of pathogenicity —
RS143823335 UROD Health Risk Likely pathogenic Familial porphyria cutanea tarda, UROD-related disorder
RS143823978 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Myofibrillar myopathy 4
RS1438245420 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS1438247325 VWF Health Risk Likely pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS1438249656 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS143825034 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS143826762 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Autosomal recessive Parkinson disease 14
RS143827025 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 6, Osteogenesis imperfecta
RS1438270423 DOCK7 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 23
RS143827313 GPI Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS143827332 SPTB Health Risk Conflicting classifications of pathogenicity —
RS143827620 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS143828400 UMPS Health Risk Conflicting classifications of pathogenicity Hereditary orotic aciduria, type 1
RS143828420 EPHA2 Health Risk Conflicting classifications of pathogenicity Cataract 6 multiple types, EPHA2-related disorder
RS1438288380 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS143828863 RNF213 Health Risk Conflicting classifications of pathogenicity Moyamoya disease 2, Gastric cancer
RS143828923 VPS45 Health Risk Conflicting classifications of pathogenicity Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
RS143829263 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS143831403 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS143831841 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-related disorder
RS1438323919 ABCA1 Health Risk Likely pathogenic —
RS143832445 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS143832637 OTUD6B Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with dysmorphic facies, seizures
RS143832764 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS1438328274 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS143833060 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS1438331937 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS143833204 NCAPD3 Health Risk Conflicting classifications of pathogenicity Microcephaly 22, primary
RS143833346 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS143834546 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS143835594 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1438358338 AFG3L2 Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS143836226 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1438362757 DNMT3B Health Risk Pathogenic/Likely pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS143838139 SMN1 Health Risk Conflicting classifications of pathogenicity Kugelberg-Welander disease, Werdnig-Hoffmann disease
RS143838146 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCA-related disorder
RS1438382972 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS143838443 MTSS2 Health Risk Conflicting classifications of pathogenicity —
RS143839208 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1438402975 SKIC3 Health Risk Pathogenic SKIC3-related disorder, Trichohepatoenteric syndrome 1
RS143840354 TSPEAR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143840974 CBL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS1438410766 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1438416713 ADAMTSL4 Health Risk Pathogenic —
RS143841809 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS143842048 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Retinal dystrophy
RS1438426784 IPO8 Health Risk Pathogenic/Likely pathogenic IPO8-related disorder, VISS syndrome
RS143843471 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS143844046 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS143844459 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, FREM1-related disorder
RS143845692 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS143847495 DNMT3B Health Risk Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS143847599 PPFIBP1 Health Risk Pathogenic Microcephaly, Severe intellectual disability
RS143848148 CRYM Health Risk Conflicting classifications of pathogenicity —
RS143848379 COL9A1 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS1438496892 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS143849895 RYR1 Health Risk Pathogenic Congenital myopathy with fiber type disproportion, Congenital myopathy with fiber type disproportion
RS1438501767 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Malignant hyperthermia
RS1438502006 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1438503836 F7 Health Risk Conflicting classifications of pathogenicity Congenital factor VII deficiency, Myocardial infarction
RS143850475 SH3PXD2B Health Risk Conflicting classifications of pathogenicity —
RS143850714 DMXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DMXL2-related disorder
RS143851739 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
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