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
RS2544234869 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS2544234953 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544235061 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544235090 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544235417 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544235453 ANKRD11 Health Risk Pathogenic —
RS2544235765 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544235786 ANKRD11 Health Risk Pathogenic —
RS2544235864 ANKRD11 Health Risk Pathogenic ANKRD11-related disorder, ANKRD11-related disorder
RS2544236108 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome 1
RS2544236736 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544236777 ANKRD11 Health Risk Pathogenic —
RS2544236793 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544236847 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544236993 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544237044 ANKRD11 Health Risk Pathogenic —
RS2544237119 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544237769 ANKRD11 Health Risk Pathogenic Rare genetic intellectual disability, KBG syndrome
RS2544237822 CCDC88C Health Risk Pathogenic —
RS2544238043 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544238192 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544238198 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544238216 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544238339 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544238494 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544238498 ANKRD11 Health Risk Pathogenic/Likely pathogenic ANKRD11-related disorder, Inborn genetic diseases
RS2544238629 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544238668 CCDC88C Health Risk Pathogenic —
RS2544238786 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544238931 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544238989 CCDC88C Health Risk Pathogenic —
RS2544239004 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544239040 CCDC88C Health Risk Pathogenic —
RS2544239147 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544239154 CCDC88C Health Risk Pathogenic —
RS2544239201 CCDC88C Health Risk Pathogenic —
RS2544239269 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544239655 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544239869 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544240066 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544240114 CCDC88C Health Risk Pathogenic —
RS2544240139 ANKRD11 Health Risk Likely pathogenic ANKRD11-related disorder, ANKRD11-related disorder
RS2544240482 CCDC88C Health Risk Pathogenic —
RS2544240491 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544240543 ANKRD11 Health Risk Pathogenic —
RS2544240590 CCDC88C Health Risk Pathogenic —
RS2544240608 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544240615 CCDC88C Health Risk Pathogenic —
RS2544240888 CCDC88C Health Risk Pathogenic —
RS2544240944 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544240988 CCDC88C Health Risk Pathogenic —
RS2544240998 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544241222 ANKRD11 Health Risk Pathogenic —
RS2544241371 ANKRD11 Health Risk Pathogenic —
RS2544241828 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544242234 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544242340 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544242573 ANKRD11 Health Risk Pathogenic KBG syndrome, Inborn genetic diseases
RS2544242608 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS2544242633 ANKRD11 Health Risk Likely pathogenic —
RS2544242682 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544242786 ANKRD11 Health Risk Pathogenic Developmental disorder, KBG syndrome
RS2544242914 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544242948 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544243344 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2544243485 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544243642 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544243740 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2544243922 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544244221 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544244349 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544244467 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544244611 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544244746 THRA Health Risk Likely pathogenic Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
RS2544245277 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544245332 ANKRD11 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, KBG syndrome
RS2544245567 MYH10 Health Risk Pathogenic Complex neurodevelopmental disorders, Complex neurodevelopmental disorders
RS2544246198 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544246392 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544246713 THRA Health Risk Likely pathogenic Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
RS2544246853 ANKRD11 Health Risk Pathogenic —
RS2544246949 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544247385 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2544247794 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2544248410 AXIN2 Health Risk Likely pathogenic Colorectal cancer, Colorectal cancer
RS2544248961 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544249018 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2544249496 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2544249759 DNAH2 Health Risk Likely pathogenic Spermatogenic failure 45, Spermatogenic failure 45
RS2544249780 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2544250338 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544250350 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544250574 FLCN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS2544250633 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544250881 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2544250959 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544251507 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2544251913 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2544251972 FUS Health Risk Pathogenic Amyotrophic lateral sclerosis type 6, Tremor
RS2544251980 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
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