SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886037756 PAX2 Health Risk Pathogenic —
RS886037757 PAX2 Health Risk Pathogenic —
RS886037758 KIF26B Health Risk Pathogenic —
RS886037759 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Inborn genetic diseases
RS886037762 MYO7A Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1
RS886037763 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS886037764 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS886037765 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS886037766 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS886037767 GRHL3 Health Risk Conflicting classifications of pathogenicity Isolated cleft palate, Van der Woude syndrome 2
RS886037768 GRHL3 Health Risk Pathogenic Isolated cleft palate, Isolated cleft palate
RS886037769 GRHL3 Health Risk Pathogenic Isolated cleft palate, Isolated cleft palate
RS886037770 GRHL3 Health Risk Pathogenic Isolated cleft palate, Isolated cleft palate
RS886037771 RMND1 Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS886037772 RMND1 Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS886037773 RMND1 Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS886037774 LPL Health Risk Likely pathogenic Hyperlipoproteinemia, type I
RS886037775 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS886037776 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Autism spectrum disorder
RS886037777 LIG4 Health Risk Likely pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS886037778 MYL4 Health Risk Pathogenic Familial atrial fibrillation, Atrial fibrillation
RS886037779 PEX6 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 2, Peroxisome biogenesis disorder 4A (Zellweger)
RS886037780 PEX6 Health Risk Pathogenic Heimler syndrome 2, Heimler syndrome 2
RS886037781 PEX6 Health Risk Pathogenic Heimler syndrome 2, Heimler syndrome 2
RS886037782 PEX6 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 2, Heimler syndrome 2
RS886037783 PEX1 Health Risk Pathogenic Heimler syndrome 1, Zellweger spectrum disorders
RS886037784 BRCA1 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer
RS886037785 BRCA1 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer
RS886037786 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037787 BRCA1 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer
RS886037788 BRCA1 Health Risk Pathogenic Breast neoplasm, Breast neoplasm
RS886037789 BRCA1 Health Risk Pathogenic Breast neoplasm, Breast neoplasm
RS886037790 BRCA1 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer
RS886037793 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast neoplasm
RS886037797 BRCA2 Health Risk Pathogenic Breast neoplasm, Breast neoplasm
RS886037798 BRCA2 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer
RS886037799 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037800 BRCA2 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer
RS886037801 BRCA2 Health Risk Pathogenic Breast neoplasm, Hereditary breast ovarian cancer syndrome
RS886037802 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary breast ovarian cancer syndrome
RS886037803 BRCA2 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer
RS886037804 BRCA2 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer
RS886037805 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037806 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary breast ovarian cancer syndrome
RS886037807 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary cancer-predisposing syndrome
RS886037808 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary cancer-predisposing syndrome
RS886037809 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary cancer-predisposing syndrome
RS886037810 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary cancer-predisposing syndrome
RS886037811 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary cancer-predisposing syndrome
RS886037812 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary cancer-predisposing syndrome
RS886037814 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary breast ovarian cancer syndrome
RS886037815 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary breast ovarian cancer syndrome
RS886037816 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS886037817 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS886037818 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037819 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary cancer-predisposing syndrome
RS886037822 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS886037823 BGN Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Meester-Loeys syndrome
RS886037825 BGN Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Meester-Loeys syndrome
RS886037827 NSMCE3 Health Risk Pathogenic Lung damage, immunodeficiency and chromosome breakage syndrome
RS886037828 OPA3 Health Risk Likely pathogenic Optic atrophy 3, Optic atrophy 3
RS886037829 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS886037830 FLNC Health Risk Pathogenic/Likely pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS886037831 HOXD13 Health Risk Pathogenic Synpolydactyly type 1, Synpolydactyly type 1
RS886037832 TWNK Health Risk Pathogenic Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia
RS886037834 PKD1L1 Health Risk Conflicting classifications of pathogenicity Situs inversus, Heterotaxy
RS886037835 TMEM126B Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 29
RS886037836 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS886037837 FGFR2 Health Risk Pathogenic Pfeiffer syndrome, Pfeiffer syndrome
RS886037841 TNIK Health Risk Pathogenic Intellectual disability, autosomal recessive 54
RS886037842 RAPSN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome 11
RS886037843 POLG2 Health Risk Conflicting classifications of pathogenicity Acute liver failure, Mitochondrial DNA depletion syndrome 16A
RS886037844 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 2
RS886037846 DGUOK Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS886037847 SIN3A Health Risk Pathogenic/Likely pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation
RS886037848 GANAB Health Risk Pathogenic POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE, POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE
RS886037849 GJB2 Health Risk Conflicting classifications of pathogenicity Mutilating keratoderma, Mutilating keratoderma
RS886037850 SLC5A2 Health Risk Pathogenic Familial renal glucosuria, Familial renal glucosuria
RS886037851 SLC25A12 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 39
RS886037853 TENM3 Health Risk Pathogenic MICROPHTHALMIA, SYNDROMIC 15
RS886037854 MOCOS Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS886037855 MOCOS Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS886037856 BHLHA9 Health Risk Likely pathogenic Camptosynpolydactyly, complex
RS886037857 TMEM126B Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 29
RS886037858 NUS1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, type IAA
RS886037859 STK11 Health Risk Pathogenic/Likely pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS886037860 DYNC2LI1 Health Risk Pathogenic Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly
RS886037861 DNM1L Health Risk Pathogenic Encephalopathy, lethal
RS886037862 MFF Health Risk Pathogenic Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2
RS886037863 INS Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 10, Maturity-onset diabetes of the young type 10
RS886037864 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS886037865 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS886037866 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS886037867 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS886037868 BCL11A Health Risk Likely pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS886037869 IFT52 Health Risk Likely pathogenic Short-rib thoracic dysplasia 16 with or without polydactyly, Short rib-polydactyly syndrome
RS886037870 IFT52 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 16 with or without polydactyly, Short rib-polydactyly syndrome
RS886037871 AIP Health Risk Likely pathogenic Familial isolated pituitary adenoma, Familial isolated pituitary adenoma
RS886037873 IARS1 Health Risk Pathogenic Growth retardation, intellectual developmental disorder
RS886037874 IARS1 Health Risk Pathogenic Growth retardation, intellectual developmental disorder
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