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
RS727502785 KCTD7 Health Risk Pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS727502786 NFKB2 Health Risk Pathogenic Immunodeficiency, common variable
RS727502787 NFKB2 Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable
RS727502788 NFKB2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS727502791 MFAP5 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 9
RS727502793 TXNL4A Health Risk Pathogenic/Likely pathogenic Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, TXNL4A-related disorder
RS727502794 TXNL4A Health Risk Pathogenic Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
RS727502795 TXNL4A Health Risk Pathogenic Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
RS727502796 FAR1 Health Risk Likely pathogenic Fatty acyl-CoA reductase 1 deficiency, Fatty acyl-CoA reductase 1 deficiency
RS727502797 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS727502799 LMOD3 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS727502800 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement
RS727502801 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS727502802 CKAP2L Health Risk Pathogenic Filippi syndrome, Filippi syndrome
RS727502803 CKAP2L Health Risk Pathogenic Filippi syndrome, Filippi syndrome
RS727502804 CKAP2L Health Risk Pathogenic Filippi syndrome, Filippi syndrome
RS727502805 CKAP2L Health Risk Pathogenic Filippi syndrome, Filippi syndrome
RS727502806 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS727502807 TUBGCP6 Health Risk Pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS727502808 TGDS Health Risk Pathogenic Catel-Manzke syndrome, Catel-Manzke syndrome
RS727502809 TGDS Health Risk Conflicting classifications of pathogenicity Catel-Manzke syndrome, Catel-Manzke syndrome
RS727502810 TUB Health Risk Pathogenic Retinal dystrophy and obesity, Retinal dystrophy and obesity
RS727502811 TOR1A Health Risk Conflicting classifications of pathogenicity Early-onset generalized limb-onset dystonia, Dystonic disorder
RS727502818 KCNC1 Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy type 7, Inborn genetic diseases
RS727502819 KCNH1 Health Risk Pathogenic Temple-Baraitser syndrome, Zimmermann-Laband syndrome 1
RS727502820 KCNH1 Health Risk Pathogenic Temple-Baraitser syndrome, Temple-Baraitser syndrome
RS727502821 KCNH1 Health Risk Pathogenic Temple-Baraitser syndrome, Temple-Baraitser syndrome
RS727502822 KCNH1 Health Risk Pathogenic Temple-Baraitser syndrome, Temple-Baraitser syndrome
RS727502823 AFG3L2 Health Risk Likely pathogenic Spastic ataxia 5, Spinocerebellar ataxia type 28
RS727502824 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS727502827 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS727502828 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS727502829 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Ullrich congenital muscular dystrophy 1A
RS727502832 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS727502841 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS727502842 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS727502847 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Primary dilated cardiomyopathy
RS727502849 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS727502851 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS727502854 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS727502855 POMT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS727502857 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS727502860 FMN2 Health Risk Pathogenic Intellectual disability, autosomal recessive 47
RS727502861 FMN2 Health Risk Pathogenic Intellectual disability, autosomal recessive 47
RS727502863 WDR73 Health Risk Pathogenic Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS727502864 WDR73 Health Risk Pathogenic/Likely pathogenic Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS727502865 DNAJC3 Health Risk Conflicting classifications of pathogenicity Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Prostate cancer
RS727502866 DTNBP1 Health Risk Pathogenic Hermansky-Pudlak syndrome 7, Hermansky-Pudlak syndrome 7
RS727502867 TALDO1 Health Risk Pathogenic Deficiency of transaldolase, Deficiency of transaldolase
RS727502869 GYG1 Health Risk Pathogenic/Likely pathogenic Polyglucosan body myopathy type 2, Glycogen storage disease XV
RS727502870 GYG1 Health Risk Pathogenic Polyglucosan body myopathy type 2, Polyglucosan body myopathy type 2
RS727502871 GYG1 Health Risk Pathogenic Polyglucosan body myopathy type 2, Glycogen storage disease XV
RS727502873 ABCC9 Health Risk Conflicting classifications of pathogenicity Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS727502876 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS727502877 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS727502878 ACTA2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS727502886 ACTN2 Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
RS727502887 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS727502888 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS727502894 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS727502895 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS727502897 BAG3 Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1HH
RS727502899 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS727502902 BRAF Health Risk Pathogenic Non-small cell lung carcinoma, Neoplasm of the large intestine
RS727502904 BRAF Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Cardio-facio-cutaneous syndrome
RS727502917 CCDC50 Health Risk Conflicting classifications of pathogenicity —
RS727502918 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS727502919 CDH23 Health Risk Likely pathogenic Rare genetic deafness, Pituitary adenoma 5
RS727502931 CDH23 Health Risk Pathogenic Usher syndrome type 1D, Rare genetic deafness
RS727502933 CDH23 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727502939 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS727502948 CTF1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS727502949 CTF1 Health Risk Conflicting classifications of pathogenicity Dilated Cardiomyopathy, Dominant
RS727502954 GSDME Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727502966 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS727502967 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS727502969 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS727502971 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS727502973 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS727502974 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS727502975 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS727502977 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS727502984 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS727502985 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS727502986 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS727502988 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS727502989 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS727502990 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS727502993 DSP Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS727502994 DSP Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727502996 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS727502997 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS727502999 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS727503000 DSP Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Primary dilated cardiomyopathy
RS727503001 DSP Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS727503003 DSP Health Risk Likely pathogenic Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS727503004 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa
RS727503007 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS727503008 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS727503009 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
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