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
RS2496762586 LRP5 Health Risk Likely pathogenic —
RS2496762929 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2496763674 MYO7A Health Risk Pathogenic —
RS2496764008 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2496764052 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496764137 MYO7A Health Risk Pathogenic —
RS2496764652 MYO7A Health Risk Pathogenic —
RS2496767276 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496768592 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496776670 LRP5 Health Risk Pathogenic —
RS2496780587 IL10RA Health Risk Pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS2496780919 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496781833 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496792628 KMT2A Health Risk Pathogenic —
RS2496793671 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496795814 KMT2A Health Risk Pathogenic —
RS2496796479 KMT2A Health Risk Pathogenic —
RS2496799241 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496801836 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496802097 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS2496802501 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496802943 KMT2A Health Risk Pathogenic —
RS2496806798 KMT2A Health Risk Pathogenic —
RS2496808952 KMT2A Health Risk Pathogenic —
RS2496809557 KMT2A Health Risk Pathogenic —
RS2496809991 MYO7A Health Risk Likely pathogenic —
RS2496810418 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496810710 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496811011 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496811453 KMT2A Health Risk Pathogenic —
RS2496812259 MYO7A Health Risk Pathogenic —
RS2496812260 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496812832 KMT2A Health Risk Pathogenic/Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496813149 KMT2A Health Risk Pathogenic/Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496814214 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496814765 LRP5 Health Risk Likely pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS2496815141 LRP5 Health Risk Likely pathogenic LRP5-related disorder, LRP5-related disorder
RS2496816468 LRP5 Health Risk Pathogenic —
RS2496816791 SORL1 Health Risk Pathogenic Complex hereditary spastic paraplegia, Complex hereditary spastic paraplegia
RS2496817348 KMT2A Health Risk Pathogenic —
RS2496817982 KMT2A Health Risk Likely pathogenic —
RS2496818327 KMT2A Health Risk Pathogenic/Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496823635 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496824516 RELA Health Risk Pathogenic Mucocutaneous ulceration, chronic
RS2496824575 MYO7A Health Risk Likely pathogenic —
RS2496825673 RELA Health Risk Pathogenic —
RS2496826322 MYO7A Health Risk Likely pathogenic —
RS2496826579 RELA Health Risk Pathogenic —
RS2496827042 RELA Health Risk Pathogenic —
RS2496827409 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496827835 RELA Health Risk Pathogenic/Likely pathogenic Mucocutaneous ulceration, chronic
RS2496830227 NARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS2496831543 LRP5 Health Risk Pathogenic —
RS2496833014 RELA Health Risk Pathogenic Mucocutaneous ulceration, chronic
RS2496833065 KMT2A Health Risk Pathogenic —
RS2496834411 RELA Health Risk Pathogenic —
RS2496834883 CD3E Health Risk Pathogenic/Likely pathogenic Immunodeficiency 18, Immunodeficiency 18
RS2496836773 CD3E Health Risk Likely pathogenic Immunodeficiency 18, Immunodeficiency 18
RS2496837031 CD3E Health Risk Pathogenic Immunodeficiency 18, Immunodeficiency 18
RS2496837183 CD3E Health Risk Likely pathogenic Immunodeficiency 18, Immunodeficiency 18
RS2496840469 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496841746 KMT2A Health Risk Pathogenic —
RS2496842029 KMT2A Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2496842179 KMT2A Health Risk Conflicting classifications of pathogenicity Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496842241 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496842510 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496843073 MYO7A Health Risk Likely pathogenic —
RS2496843325 RP2 Health Risk Pathogenic —
RS2496843802 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2496843903 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496844049 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496844281 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496844332 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2496844552 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496844898 MYO7A Health Risk Likely pathogenic —
RS2496845350 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496845416 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496845455 ABCC8 Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496845533 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496846060 MYO7A Health Risk Pathogenic —
RS2496846680 MYO7A Health Risk Pathogenic —
RS2496847338 RELA Health Risk Pathogenic —
RS2496848830 RELA Health Risk Pathogenic —
RS2496851854 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Familial hyperinsulinism
RS2496852584 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496852810 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496853251 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496853367 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496853827 LRP5 Health Risk Pathogenic —
RS2496854288 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496854823 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496854886 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496854928 ABCC8 Health Risk Likely pathogenic Familial hyperinsulinism, Type 2 diabetes mellitus
RS2496857977 LRRK1 Health Risk Pathogenic —
RS2496858372 RELA Health Risk Pathogenic —
RS2496862861 KMT2A Health Risk Pathogenic —
RS2496863262 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496864113 ABCC8 Health Risk Likely pathogenic —
RS2496864429 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2496865274 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
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