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
RS267606764 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS267606767 DHODH Health Risk Pathogenic Miller syndrome, Miller syndrome
RS267606769 DHODH Health Risk Pathogenic Miller syndrome, Miller syndrome
RS267606770 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS267606771 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS267606772 DNM2 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Charcot-Marie-Tooth disease type 2M, Charcot-Marie-Tooth disease dominant intermediate B
RS267606773 DPYS Health Risk Pathogenic Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
RS267606774 DPYS Health Risk Pathogenic Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
RS267606775 DSG4 Health Risk Pathogenic Hypotrichosis 6, Hypotrichosis 6
RS267606776 DSG4 Health Risk Pathogenic Hypotrichosis 6, Hypotrichosis 6
RS267606777 DSG4 Health Risk Likely pathogenic Hypotrichosis 6, Hypotrichosis 6
RS267606778 EDN3 Health Risk Pathogenic Waardenburg syndrome type 4B, Waardenburg syndrome type 4B
RS267606779 EDN3 Health Risk Pathogenic Waardenburg syndrome type 4B, Waardenburg syndrome type 4B
RS267606780 EDNRB Health Risk risk factor Hirschsprung disease, susceptibility to
RS267606782 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, CARDIOMYOPATHY
RS267606783 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS267606784 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS267606785 EPCAM Health Risk Pathogenic Congenital diarrhea 5 with tufting enteropathy, Congenital diarrhea 5 with tufting enteropathy
RS267606786 EXT2 Health Risk Pathogenic Exostoses, multiple
RS267606787 F13A1 Health Risk Likely pathogenic Factor XIII, A subunit
RS267606788 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS267606789 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS267606790 F7 Health Risk Pathogenic Factor VII deficiency, Factor VII deficiency
RS267606791 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Thyroid cancer
RS267606792 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS267606793 FAM161A Health Risk Pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS267606794 FAM161A Health Risk Pathogenic Retinitis pigmentosa 28, Retinal dystrophy
RS267606795 FAM20C Health Risk Pathogenic Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
RS267606796 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS267606797 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS267606798 FBN1 Health Risk Pathogenic/Likely pathogenic Stiff skin syndrome, Marfan syndrome
RS267606799 FBN1 Health Risk Pathogenic Stiff skin syndrome, Stiff skin syndrome
RS267606800 FBN1 Health Risk Pathogenic/Likely pathogenic Stiff skin syndrome, Marfan syndrome
RS267606801 FBN1 Health Risk Likely pathogenic Stiff skin syndrome, Marfan syndrome
RS267606802 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS267606805 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS267606806 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS267606811 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS267606812 FHL1 Health Risk Pathogenic Myopathy, reducing body
RS267606813 FHL1 Health Risk Pathogenic Myopathy, reducing body
RS267606814 FKTN Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS267606815 FLNA Health Risk Conflicting classifications of pathogenicity Cardiac valvular dysplasia, X-linked
RS267606816 FLNA Health Risk Pathogenic/Likely pathogenic Cardiac valvular dysplasia, X-linked
RS267606817 FLNA Health Risk Pathogenic Cardiac valvular dysplasia, X-linked
RS267606818 FLT4 Health Risk Pathogenic Hereditary lymphedema type I, Hereditary lymphedema type I
RS267606819 FLVCR1 Health Risk Pathogenic Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
RS267606820 FLVCR1 Health Risk Pathogenic Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
RS267606821 FLVCR1 Health Risk Pathogenic/Likely pathogenic Posterior column ataxia-retinitis pigmentosa syndrome, Inborn genetic diseases
RS267606822 FLVCR2 Health Risk Pathogenic Fowler syndrome, Fowler syndrome
RS267606823 FLVCR2 Health Risk Pathogenic Fowler syndrome, Fowler syndrome
RS267606824 FLVCR2 Health Risk Pathogenic Fowler syndrome, Fowler syndrome
RS267606825 FLVCR2 Health Risk Pathogenic Fowler syndrome, Fowler syndrome
RS267606826 FOXG1 Health Risk Pathogenic FOXG1 disorder, Inborn genetic diseases
RS267606827 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS267606828 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS267606829 FOXRED1 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 19
RS267606830 FOXRED1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 19
RS267606832 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS267606834 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS267606837 GABRG2 Health Risk Pathogenic Febrile seizures, familial
RS267606838 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS267606841 GALNT3 Health Risk Pathogenic Tumoral calcinosis, hyperphosphatemic
RS267606842 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2K, Autosomal dominant Charcot-Marie-Tooth disease type 2K
RS267606843 GHSR Health Risk Pathogenic Short stature due to growth hormone secretagogue receptor deficiency, Short stature due to growth hormone secretagogue receptor deficiency
RS267606844 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, autosomal recessive
RS267606845 GJA1 Health Risk Likely pathogenic Oculodentodigital dysplasia, autosomal recessive
RS267606846 GJC2 Health Risk Pathogenic Lymphatic malformation 3, Lymphatic malformation 3
RS267606847 GJC2 Health Risk Pathogenic Lymphatic malformation 3, Lymphatic malformation 3
RS267606848 GLRA1 Health Risk Pathogenic Hyperekplexia 1, Hyperekplexia 1
RS267606849 GP1BA Health Risk Pathogenic Bernard-Soulier syndrome, type A1
RS267606850 GPC3 Health Risk Likely pathogenic Simpson-Golabi-Behmel syndrome type 1, Inborn genetic diseases
RS267606851 GPI Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Thyroid cancer
RS267606852 GPI Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS267606853 GPI Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS267606854 GPSM2 Health Risk Pathogenic Chudley-McCullough syndrome, Hearing loss
RS267606855 GRXCR1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 25, Hearing loss
RS267606857 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Cone-rod dystrophy 6
RS267606859 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 2
RS267606861 HDC Health Risk Pathogenic Tourette syndrome, Tourette syndrome
RS267606862 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS267606863 HPRT1 Health Risk Likely pathogenic Lesch-Nyhan syndrome, Lesch-Nyhan syndrome
RS267606864 HPSE2 Health Risk Pathogenic Urofacial syndrome type 1, Urofacial syndrome type 1
RS267606865 HPSE2 Health Risk Pathogenic/Likely pathogenic Urofacial syndrome type 1, Congenital anomaly of kidney and urinary tract
RS267606866 HPSE2 Health Risk Pathogenic/Likely pathogenic Urofacial syndrome type 1, Urofacial syndrome type 1
RS267606867 HRURF Health Risk Pathogenic Hypotrichosis 4, Hypotrichosis 4
RS267606868 HRURF Health Risk Pathogenic Hypotrichosis 4, Hypotrichosis 4
RS267606869 HRURF Health Risk Pathogenic Hypotrichosis 4, Hypotrichosis 4
RS267606870 IDH2 Health Risk Pathogenic D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2
RS267606871 IGHM Health Risk Pathogenic Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1
RS267606872 IHH Health Risk Pathogenic Brachydactyly type A1, Brachydactyly type A1
RS267606873 IHH Health Risk Likely pathogenic Brachydactyly type A1, Brachydactyly type A1
RS267606874 IMPG2 Health Risk Pathogenic Retinitis pigmentosa 56, Retinitis pigmentosa
RS267606875 IMPG2 Health Risk Pathogenic Retinitis pigmentosa 56, Macular dystrophy
RS267606876 IMPG2 Health Risk Pathogenic Retinitis pigmentosa 56, Retinal dystrophy
RS267606877 INF2 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, INF2-related disorder
RS267606878 INF2 Health Risk Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS267606879 INF2 Health Risk Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS267606880 INF2 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5
RS267606884 MT-CO1 Health Risk Pathogenic Familial colorectal cancer, Familial colorectal cancer
RS267606886 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
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