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
RS2508834923 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508834962 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508835058 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508835122 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508835198 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508835216 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508835380 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508835538 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508835559 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508835674 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508835680 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508837771 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508837920 NF1 Health Risk Pathogenic —
RS2508838042 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508840137 EFTUD2 Health Risk Likely pathogenic —
RS2508840177 EFTUD2 Health Risk Pathogenic Global developmental delay, Global developmental delay
RS2508840210 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508842735 NF1 Health Risk Pathogenic/Likely pathogenic Juvenile myelomonocytic leukemia, Neurofibromatosis
RS2508866762 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2508877889 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2508878334 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2508879017 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2508896569 DNAAF19 Health Risk Likely pathogenic Primary ciliary dyskinesia 17, Primary ciliary dyskinesia 17
RS2508900110 DNAAF19 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2508900227 DNAAF19 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2508900598 DNAAF19 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2508918698 IMPG2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2508923016 GFAP Health Risk Likely pathogenic —
RS2508925248 IMPG2 Health Risk Pathogenic —
RS2508925411 IMPG2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2508925531 IMPG2 Health Risk Likely pathogenic Vitelliform macular dystrophy 5, Retinal dystrophy
RS2508933141 GFAP Health Risk Conflicting classifications of pathogenicity Alexander disease, Alexander disease
RS2508933747 GFAP Health Risk Likely pathogenic —
RS2508935534 ITGA3 Health Risk Pathogenic Epidermolysis bullosa, junctional 7
RS2508937834 ITGA3 Health Risk Likely pathogenic —
RS2508940444 GFAP Health Risk Likely pathogenic —
RS2508942846 IMPG2 Health Risk Pathogenic —
RS2508943991 IMPG2 Health Risk Pathogenic —
RS2508947210 IMPG2 Health Risk Pathogenic —
RS2508947333 IMPG2 Health Risk Pathogenic —
RS2508948888 GFAP Health Risk Likely pathogenic Alexander disease, Alexander disease
RS2508949801 GFAP Health Risk Likely pathogenic Alexander disease, Alexander disease
RS2508949861 GFAP Health Risk Likely pathogenic —
RS2508951149 GFAP Health Risk Pathogenic GFAP-related disorder, GFAP-related disorder
RS2508969338 IMPG2 Health Risk Pathogenic —
RS2508986019 IMPG2 Health Risk Likely pathogenic —
RS2508989619 IMPG2 Health Risk Likely pathogenic —
RS2508989693 IMPG2 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS2508996470 IMPG2 Health Risk Pathogenic —
RS2509016110 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2509016412 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2509022419 IMPG2 Health Risk Likely pathogenic —
RS2509043231 IMPG2 Health Risk Likely pathogenic Vitelliform macular dystrophy 3, Vitelliform macular dystrophy 3
RS2509062269 IMPG2 Health Risk Likely pathogenic —
RS2509062500 IMPG2 Health Risk Pathogenic —
RS2509062524 IMPG2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2509062717 IMPG2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2509063453 IMPG2 Health Risk Pathogenic/Likely pathogenic IMPG2-related recessive retinopathy, IMPG2-related recessive retinopathy
RS2509077600 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2509113878 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509113935 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509113948 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509117878 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509117896 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509117897 STAT3 Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS2509117903 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS2509118076 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509118207 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509118228 STAT3 Health Risk Likely pathogenic STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS2509118693 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509118765 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509118810 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509118949 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509119030 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509119198 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509121499 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509121804 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509122225 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509122255 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509122809 RAD51D Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2509123048 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509123275 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509124437 RAD51D Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2509124456 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2509124487 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2509124515 RAD51D Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509124620 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2509124625 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2509124779 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2509125000 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2509125153 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509125158 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2509125245 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509125625 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509126902 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2509128875 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509129015 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509129209 RAD51D Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS2509130047 RAD51D Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509130113 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
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