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
RS2488149299 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488149487 CHD7 Health Risk Likely pathogenic —
RS2488149713 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488152784 ZFPM2 Health Risk Likely pathogenic —
RS2488153535 ZFPM2 Health Risk Likely pathogenic —
RS2488163496 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Aplastic anemia
RS2488163550 NBN Health Risk Conflicting classifications of pathogenicity Gastric cancer, Aplastic anemia
RS2488190796 NBN Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2488190937 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488190993 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488191040 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488191186 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488191216 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488191378 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488191393 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488191721 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488191739 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488192036 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488201331 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488201562 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488202605 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488202742 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488203294 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488203306 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488209092 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488209131 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488209329 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488209363 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488209630 NBN Health Risk Likely pathogenic Aplastic anemia, Microcephaly
RS2488209699 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488228635 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488229290 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488229897 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488229908 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488230283 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488230324 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488230389 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488230409 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488230522 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488230949 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2488231541 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488232032 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488232425 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488232437 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488232692 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488232901 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS2488233039 NBN Health Risk Pathogenic/Likely pathogenic Aplastic anemia, Hereditary cancer-predisposing syndrome
RS2488233110 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488233455 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488234315 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488234559 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488234618 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488242045 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488242223 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488242273 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488242656 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488243269 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488243337 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488243439 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488243594 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488244167 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488244868 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488245534 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488260127 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488260845 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488261096 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488267195 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488267313 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488267977 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488268134 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488268190 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2488283819 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488284081 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488284751 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2488286486 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2488309193 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488309283 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488309603 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488309656 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488310308 NBN Health Risk Pathogenic/Likely pathogenic Aplastic anemia, Microcephaly
RS2488310464 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488311222 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488315047 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488343356 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488343766 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488344461 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488344564 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488350348 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2488355261 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS2488355545 NBN Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2488355798 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2488355999 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Aplastic anemia
RS2488356840 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2488356977 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488357436 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488359906 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488360166 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488360542 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2488361684 NBN Health Risk Pathogenic Gastric cancer, Microcephaly
RS2488361722 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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