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
RS2129630217 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2129644242 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2129644267 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2129645235 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129645358 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129647242 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129647483 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129647777 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129648967 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129649243 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2129649366 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129649871 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129649998 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129650066 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129650387 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2129651081 CHD7 Health Risk Pathogenic —
RS2129651419 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS2129653634 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2129659522 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129659855 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129663304 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129664310 FAM83H Health Risk Likely pathogenic —
RS2129668758 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, hypocalcification type
RS2129674125 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, hypocalcification type
RS2129674608 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, hypocalcification type
RS2129679879 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Multiple congenital exostosis
RS2129679904 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129680761 ERLIN2 Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2129693279 EXT1 Health Risk Likely pathogenic Chondrosarcoma, Chondrosarcoma
RS2129693616 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129693896 TONSL Health Risk Pathogenic —
RS2129694129 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129694149 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129694265 EXT1 Health Risk Likely pathogenic Exostoses, multiple
RS2129695663 NBN Health Risk Likely pathogenic Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS2129696816 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129697808 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS2129697994 NBN Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2129699105 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129699596 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129700612 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129700894 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129701119 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129701175 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129701239 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129701251 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129701642 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129701760 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129704309 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129704501 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129704530 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2129708244 PMP2 Health Risk Pathogenic/Likely pathogenic Peripheral neuropathy, Charcot-Marie-Tooth disease
RS2129710278 ERLIN2 Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2129714616 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129716262 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129717018 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129717307 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129717874 NBN Health Risk Pathogenic —
RS2129719586 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129719653 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129719894 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS2129720016 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129720069 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129720196 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129720355 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129720423 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129720470 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129721263 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129721280 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS2129721505 CHD7 Health Risk Pathogenic —
RS2129721609 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2129721628 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129721709 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129721740 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2129721927 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2129722387 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129725849 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129725961 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129726150 ERLIN2 Health Risk Pathogenic Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18
RS2129726316 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2129726392 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129728774 ERLIN2 Health Risk Pathogenic Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18
RS2129734219 TTPA Health Risk Likely pathogenic Abnormal central motor function, Abnormal central motor function
RS2129734482 TTPA Health Risk Pathogenic —
RS2129735272 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129735367 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129736434 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129736695 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129736985 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129740737 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129740749 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129741436 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129741848 TTPA Health Risk Pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS2129744712 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129744741 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129745511 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129745554 NBN Health Risk Pathogenic Ovarian carcinoma, Microcephaly
RS2129745568 TTPA Health Risk Likely pathogenic —
RS2129746116 TTPA Health Risk Pathogenic —
RS2129747101 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
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