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
RS2496499928 RASGRP2 Health Risk Pathogenic —
RS2496500008 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2496501378 ABCC8 Health Risk Likely pathogenic —
RS2496502495 ABCC8 Health Risk Pathogenic —
RS2496508385 MTMR2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1
RS2496509129 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496509193 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS2496512657 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496513303 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496515487 RASGRP2 Health Risk Pathogenic —
RS2496516251 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496519075 ABCC8 Health Risk Likely pathogenic —
RS2496519550 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496519759 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496519859 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496526463 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496526474 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496526832 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496527104 ABCC8 Health Risk Pathogenic —
RS2496527196 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496527262 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496527659 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496527665 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS2496528041 TYR Health Risk Pathogenic —
RS2496528091 TYR Health Risk Pathogenic —
RS2496528146 TYR Health Risk Likely pathogenic —
RS2496528211 TYR Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS2496528392 TYR Health Risk Pathogenic —
RS2496528505 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS2496528552 TYR Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS2496528576 TYR Health Risk Likely pathogenic —
RS2496528663 TYR Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS2496528669 TYR Health Risk Pathogenic —
RS2496528837 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS2496529099 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS2496529123 TYR Health Risk Pathogenic TYR-related disorder, TYR-related disorder
RS2496529208 TYR Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS2496529286 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS2496529313 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS2496529464 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496529623 TYR Health Risk Pathogenic —
RS2496530024 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496530076 TYR Health Risk Likely pathogenic —
RS2496530112 CTSC Health Risk Conflicting classifications of pathogenicity Papillon-Lefèvre syndrome, Papillon-Lefèvre syndrome
RS2496530145 TYR Health Risk Pathogenic —
RS2496530304 TYR Health Risk Pathogenic —
RS2496530428 TYR Health Risk Likely pathogenic —
RS2496530557 ABCC8 Health Risk Pathogenic —
RS2496530791 TYR Health Risk Pathogenic —
RS2496530915 ABCC8 Health Risk Likely pathogenic Leucine-induced hypoglycemia, Leucine-induced hypoglycemia
RS2496530929 TYR Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS2496531528 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496532246 ABCC8 Health Risk Pathogenic —
RS2496532386 ABCC8 Health Risk Pathogenic —
RS2496532669 CTSC Health Risk Pathogenic Haim-Munk syndrome, Periodontitis
RS2496532700 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS2496532756 CTSC Health Risk Pathogenic Papillon-Lefèvre syndrome, Papillon-Lefèvre syndrome
RS2496532776 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS2496532792 CTSC Health Risk Likely pathogenic Papillon-Lefèvre syndrome, Haim-Munk syndrome
RS2496533083 CTSC Health Risk Pathogenic Haim-Munk syndrome, Periodontitis
RS2496534663 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2496540442 CTSC Health Risk Pathogenic Haim-Munk syndrome, Periodontitis
RS2496540540 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS2496540657 CTSC Health Risk Pathogenic Haim-Munk syndrome, Papillon-Lefèvre syndrome
RS2496540747 CTSC Health Risk Likely pathogenic Papillon-Lefèvre syndrome, Periodontitis
RS2496542700 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496543075 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496552243 TYR Health Risk Pathogenic —
RS2496552273 TYR Health Risk Pathogenic Oculocutaneous albinism, Oculocutaneous albinism
RS2496552504 TYR Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS2496554931 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2496555527 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
RS2496555781 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS2496555907 CTSC Health Risk Pathogenic Papillon-Lefèvre syndrome, Papillon-Lefèvre syndrome
RS2496555992 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS2496556090 CTSC Health Risk Pathogenic Papillon-Lefèvre syndrome, Haim-Munk syndrome
RS2496556141 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS2496556146 CTSC Health Risk Pathogenic Haim-Munk syndrome, Periodontitis
RS2496556240 CTSC Health Risk Pathogenic Papillon-Lefèvre syndrome, Papillon-Lefèvre syndrome
RS2496556981 ABCC8 Health Risk Conflicting classifications of pathogenicity Leucine-induced hypoglycemia, Diabetes mellitus
RS2496557201 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496557533 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496558567 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496560570 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS2496560615 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS2496561076 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2496561722 CTSC Health Risk Likely pathogenic Haim-Munk syndrome, Periodontitis
RS2496561928 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS2496562015 CTSC Health Risk Pathogenic Haim-Munk syndrome, Periodontitis
RS2496562224 CTSC Health Risk Likely pathogenic Papillon-Lefèvre syndrome, Papillon-Lefèvre syndrome
RS2496562331 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS2496564107 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS2496566673 MRE11 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2496567570 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS2496567659 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS2496568167 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS2496570033 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1
RS2496570243 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496570663 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS2496570703 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, PTS-related disorder
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