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
RS5030818 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS5030819 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS5030820 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Pheochromocytoma
RS5030821 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS5030822 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS5030823 VHL Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Von Hippel-Lindau syndrome
RS5030825 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS5030826 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS5030827 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS5030829 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS5030830 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS5030832 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS5030833 VHL Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS5030835 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS5030841 PAH Health Risk Pathogenic Phenylketonuria, Inborn genetic diseases
RS5030842 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS5030843 PAH Health Risk Pathogenic Phenylketonuria, PAH-related disorder
RS5030844 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS5030845 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS5030846 PAH Health Risk Pathogenic Phenylketonuria, Inborn genetic diseases
RS5030847 PAH Health Risk Pathogenic Phenylketonuria, See cases
RS5030848 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS5030849 PAH Health Risk Likely pathogenic Phenylketonuria, PAH-related disorder
RS5030850 PAH Health Risk Pathogenic Phenylketonuria, Pulmonary hypertension
RS5030851 PAH Health Risk Pathogenic Phenylketonuria, Inborn genetic diseases
RS5030852 PAH Health Risk Pathogenic Phenylketonuria, Hyperphenylalaninemia
RS5030853 PAH Health Risk Pathogenic Phenylketonuria, Hyperphenylalaninemia
RS5030854 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS5030855 PAH Health Risk Pathogenic Phenylketonuria, Inborn genetic diseases
RS5030856 PAH Health Risk Pathogenic Hyperphenylalaninemia, Phenylketonuria
RS5030857 PAH Health Risk Pathogenic Phenylketonuria, Inborn genetic diseases
RS5030858 PAH Health Risk Pathogenic Phenylketonuria, PAH-related disorder
RS5030859 PAH Health Risk Pathogenic Phenylketonuria, PAH-related disorder
RS5030860 PAH Health Risk Pathogenic Hyperphenylalaninemia, Phenylketonuria
RS5030861 PAH Health Risk Likely pathogenic Phenylketonuria, Inborn genetic diseases
RS5030868 G6PD Health Risk Pathogenic/Likely pathogenic G6PD MEDITERRANEAN, G6PD CAGLIARI
RS5030869 G6PD Health Risk Pathogenic G6PD CHATHAM, Anemia
RS5030872 G6PD Health Risk Pathogenic/Likely pathogenic G6PD MALAGA, Anemia
RS5030952 CAPN10 Health Risk risk factor Type 2 diabetes mellitus 1, susceptibility to
RS5031012 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS5038 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia, Autosomal dominant distal renal tubular acidosis
RS5041 AGT Health Risk Conflicting classifications of pathogenicity —
RS505058 LMNA Health Risk Conflicting classifications of pathogenicity Hutchinson-Gilford syndrome, Lethal tight skin contracture syndrome
RS507666 ABO Health Risk association ABO blood group system, ABO blood group system
RS509504 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS513699 CFH Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
RS515726060 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS515726063 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726065 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS515726067 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726071 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726072 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726073 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726075 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726081 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726083 PALB2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS515726085 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726088 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726094 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726099 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726103 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726104 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726108 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726111 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726113 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726114 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group N
RS515726116 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726117 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726118 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS515726122 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726123 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726125 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726126 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726127 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS515726130 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS515726131 CLCN2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, JUVENILE MYOCLONIC
RS515726134 BBIP1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 18
RS515726135 LZTFL1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 17
RS515726136 LZTFL1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 17
RS515726137 ATP8B1 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, Inborn genetic diseases
RS515726141 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, SAMHD1-related disorder
RS515726143 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS515726145 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Inborn genetic diseases
RS515726146 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS515726147 ABCB7 Health Risk Pathogenic X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with ataxia
RS515726148 APOE Health Risk Pathogenic Sea-blue histiocyte syndrome, Cardiovascular phenotype
RS515726149 PIK3R1 Health Risk Conflicting classifications of pathogenicity SHORT syndrome, SHORT syndrome
RS515726153 TRPV4 Health Risk Pathogenic Skeletal dysplasia, Metatropic dysplasia
RS515726154 TRPV4 Health Risk Pathogenic/Likely pathogenic Skeletal dysplasia, Skeletal dysplasia and progressive central nervous system degeneration
RS515726162 TRPV4 Health Risk Pathogenic/Likely pathogenic Skeletal dysplasia, Charcot-Marie-Tooth disease axonal type 2C
RS515726163 TRPV4 Health Risk Pathogenic Skeletal dysplasia, Metatropic dysplasia
RS515726166 TRPV4 Health Risk Pathogenic Neuromuscular disease, Skeletal dysplasia
RS515726170 TRPV4 Health Risk Pathogenic Familial digital arthropathy-brachydactyly, Familial digital arthropathy-brachydactyly
RS515726172 TRPV4 Health Risk Likely pathogenic Skeletal dysplasia, Skeletal dysplasia
RS515726173 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS515726175 CPT2 Health Risk Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS515726177 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS515726180 RRM2B Health Risk Pathogenic/Likely pathogenic RRM2B-related mitochondrial disease, Mitochondrial disease
RS515726181 RRM2B Health Risk Pathogenic/Likely pathogenic RRM2B-related mitochondrial disease, Mitochondrial DNA depletion syndrome 8a
RS515726183 RRM2B Health Risk Likely pathogenic —
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