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
RS1600416052 PNKP Health Risk Pathogenic Microcephaly, seizures
RS1600423552 PNKP Health Risk Likely pathogenic —
RS1600429244 MAFB Health Risk Likely pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy
RS1600429262 MAFB Health Risk Pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy
RS1600429281 MAFB Health Risk Likely pathogenic Carpal osteolysis, Multicentric carpo-tarsal osteolysis with or without nephropathy
RS1600445482 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1600446366 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1600446408 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1600448065 MYH7B Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS1600462474 MYH7B Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS1600467547 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1600469027 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1600469287 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1600470099 LGI4 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 1, neurogenic
RS1600471396 CNOT3 Health Risk Pathogenic Intellectual developmental disorder with speech delay, autism
RS1600475941 DDRGK1 Health Risk Likely pathogenic —
RS1600477446 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Hypoprebetalipoproteinemia
RS1600477808 MYH7B Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS1600480573 MYH7B Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS1600482167 PRKAR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carney complex
RS1600482909 JPH2 Health Risk Pathogenic Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy 17
RS1600484162 PRKAR1A Health Risk Likely pathogenic —
RS1600486197 PRKAR1A Health Risk Likely pathogenic Acrodysostosis 1 with or without hormone resistance, Acrodysostosis 1 with or without hormone resistance
RS1600501018 CNOT3 Health Risk Pathogenic Intellectual developmental disorder with speech delay, autism
RS1600504088 CNOT3 Health Risk Pathogenic Intellectual developmental disorder with speech delay, autism
RS1600504872 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1600509558 ITPA Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 35
RS1600514073 CNOT3 Health Risk Pathogenic Intellectual developmental disorder with speech delay, autism
RS1600534514 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1600542260 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1600542275 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1600546214 ARFGEF2 Health Risk Likely pathogenic —
RS1600548506 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1600561475 SLC4A11 Health Risk Pathogenic/Likely pathogenic Corneal dystrophy, Fuchs endothelial
RS1600566207 PANK2 Health Risk Pathogenic —
RS1600577387 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS1600578193 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1600583334 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1600586513 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1600586587 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Myelodysplastic syndrome
RS1600587608 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1600588199 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1600588239 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1600590580 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS1600592765 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1600592887 SLC4A11 Health Risk Pathogenic —
RS1600592990 ASXL1 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1600594932 ASXL1 Health Risk Pathogenic —
RS1600596180 NOVA2 Health Risk Pathogenic Severe intellectual disability, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
RS1600618680 SLC4A11 Health Risk Pathogenic Corneal dystrophy, Fuchs endothelial
RS1600621248 RPS19 Health Risk Conflicting classifications of pathogenicity Landsteiner-Wiener phenotype, Diamond-Blackfan anemia
RS1600623496 ARFGEF2 Health Risk Pathogenic Periventricular heterotopia with microcephaly, autosomal recessive
RS1600630942 RYR1 Health Risk Likely pathogenic Congenital multicore myopathy with external ophthalmoplegia, Congenital multicore myopathy with external ophthalmoplegia
RS1600631294 CD79A Health Risk Pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1600631593 CD79A Health Risk Pathogenic Agammaglobulinemia 3, autosomal recessive
RS1600635111 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1600644179 SMARCA4 Health Risk Likely pathogenic —
RS1600644640 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1600649879 RYR1 Health Risk Likely pathogenic Congenital multicore myopathy with external ophthalmoplegia, Congenital multicore myopathy with external ophthalmoplegia
RS1600650861 CRLF1 Health Risk Pathogenic Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
RS1600651228 CRLF1 Health Risk Pathogenic Crisponi/Cold-induced sweating syndrome, Crisponi/Cold-induced sweating syndrome
RS1600651595 MBOAT7 Health Risk Pathogenic —
RS1600656141 PIGU Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 21, Glycosylphosphatidylinositol biosynthesis defect 21
RS1600658150 CD40 Health Risk Likely pathogenic —
RS1600682739 RYR1 Health Risk Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1600683021 RYR1 Health Risk Pathogenic —
RS1600683731 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Cardiovascular phenotype
RS1600700389 NLRP12 Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS1600704961 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Cardiovascular phenotype
RS1600706153 RYR1 Health Risk Likely pathogenic RYR1-related myopathy, RYR1-related myopathy
RS1600707958 HNF4A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1600710669 HNF4A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1600711065 LDLR Health Risk Likely pathogenic —
RS1600713742 LDLR Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1600714727 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial neonatal
RS1600715039 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1600715089 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1600715567 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1600720232 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1600720921 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1600726930 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1600727285 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Dyslipidemia
RS1600727337 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1600727715 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Cardiovascular phenotype
RS1600731073 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1600731198 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young type 1, Monogenic diabetes
RS1600731888 KCNQ2 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1600732159 KCNQ2 Health Risk Pathogenic —
RS1600732174 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS1600732566 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1600732894 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1600742966 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1600743301 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Hypercholesterolemia
RS1600751236 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1600755429 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1600755440 KCNQ2 Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1600755607 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1600755957 HCK Health Risk Likely pathogenic —
RS1600762098 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1600765031 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
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