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
RS2491961949 HNRNPK Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2491962274 HNRNPK Health Risk Pathogenic HNRNPK-related disorder, HNRNPK-related disorder
RS2491962345 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2491962567 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2491964775 ADAM9 Health Risk Likely pathogenic —
RS2491966303 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2491966403 WAC Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2491969421 HNRNPK Health Risk Pathogenic/Likely pathogenic Neonatal encephalopathy, Au-Kline syndrome
RS2491971646 WAC Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2491972816 WAC Health Risk Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2491975846 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2491976646 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491976835 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491976875 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491980145 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2491980465 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2491980539 HNRNPK Health Risk Likely pathogenic HNRNPK-related disorder, HNRNPK-related disorder
RS2491980894 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2491983430 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2491983663 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2491985362 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2491985371 ADAM9 Health Risk Pathogenic —
RS2491985374 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2491985574 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2491985651 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2491990498 HNRNPK;HNRNPK-AS1 Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2491990519 HNRNPK Health Risk Pathogenic —
RS2491995210 ADAM9 Health Risk Likely pathogenic —
RS2492005109 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2492005406 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2492005762 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492005783 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492005812 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492006068 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492006345 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492006351 VPS13B Health Risk Likely pathogenic VPS13B-related disorder, Cohen syndrome
RS2492008984 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492009076 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492009169 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492010569 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492013977 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492014077 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492015710 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492017096 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2492017105 HNRNPK Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2492020273 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492020910 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492023267 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2492023846 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2492024060 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2492024196 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2492024816 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2492025312 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2492025436 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492025655 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS2492026077 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492027408 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492027647 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492027730 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492028268 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Thyroid cancer
RS2492029077 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2492029160 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2492032478 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492032587 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492033381 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS2492033394 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492033549 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492033561 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492034634 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2492034750 DNAI1 Health Risk Likely pathogenic DNAI1-related disorder, DNAI1-related disorder
RS2492038028 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2492038105 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492040094 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2492040262 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2492044745 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492046422 ZMIZ1 Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
RS2492058503 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492058692 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS2492066969 ADAM9 Health Risk Pathogenic Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS2492068574 ADAM9 Health Risk Pathogenic —
RS2492070130 NUP188 Health Risk Pathogenic —
RS2492070590 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2492072291 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492072326 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492075310 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492076262 BICC1 Health Risk Likely pathogenic Renal dysplasia, cystic
RS2492076708 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2492076748 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS2492077143 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2492077470 DCLRE1C Health Risk Pathogenic/Likely pathogenic Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2492077741 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2492078479 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2492087728 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2492090314 DLG5 Health Risk Pathogenic Yuksel-Vogel-Bauer syndrome, Yuksel-Vogel-Bauer syndrome
RS2492092129 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492093289 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492093854 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492094676 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492095273 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492096070 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
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