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
RS2515995820 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2515995877 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2515997041 ARFGEF2 Health Risk Likely pathogenic Periventricular heterotopia with microcephaly, autosomal recessive
RS2516002006 PLCB4 Health Risk Pathogenic Auriculocondylar syndrome 2, Auriculocondylar syndrome 2
RS2516003230 LDLR Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2516003581 LDLR Health Risk Pathogenic Cardiovascular phenotype, Hypercholesterolemia
RS2516003630 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2516003967 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2516004003 LDLR Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2516004016 LDLR Health Risk Likely pathogenic Abnormal circulating lipid concentration, Familial hypercholesterolemia
RS2516004084 LDLR Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2516004430 LDLR Health Risk Pathogenic Abnormal circulating lipid concentration, Abnormal circulating lipid concentration
RS2516005181 LDLR Health Risk Pathogenic Cardiovascular phenotype, Familial hypercholesterolemia
RS2516005636 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2516005878 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2516006288 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2516006825 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2516015591 COL9A3 Health Risk Pathogenic —
RS2516029074 COL9A3 Health Risk Pathogenic Stickler syndrome, type 6
RS2516030998 COL9A3 Health Risk Likely pathogenic Epiphyseal dysplasia, multiple
RS2516037509 COL9A3 Health Risk Pathogenic —
RS2516041786 TAF4 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 73
RS2516043040 ARFGEF2 Health Risk Pathogenic —
RS2516055830 LAMA5 Health Risk Likely pathogenic Nephrotic syndrome, IIa 26
RS2516057594 COL9A3 Health Risk Pathogenic —
RS2516077994 PRPF31 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2516079854 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2516081224 PRPF31 Health Risk Likely pathogenic —
RS2516083955 PRPF31 Health Risk Pathogenic —
RS2516084081 PRPF31 Health Risk Pathogenic —
RS2516087034 COL9A3 Health Risk Likely pathogenic —
RS2516089906 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516090212 NDUFAF5 Health Risk Pathogenic —
RS2516090453 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516091019 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516091086 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516091356 NDUFAF5 Health Risk Pathogenic —
RS2516091432 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516091525 NDUFAF5 Health Risk Pathogenic —
RS2516092158 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2516092206 NDUFAF5 Health Risk Pathogenic —
RS2516092247 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516093687 NDUFAF5 Health Risk Pathogenic —
RS2516093868 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial neonatal
RS2516094014 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516094689 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516094740 NDUFAF5 Health Risk Pathogenic —
RS2516095055 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516095389 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516095868 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS2516096143 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS2516097737 KCNQ2 Health Risk Pathogenic KCNQ2-related disorder, KCNQ2-related disorder
RS2516098080 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS2516098402 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516099742 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516100518 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS2516100536 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516102200 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516102657 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516102768 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS2516102833 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516104257 KCNQ2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2516104486 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516105014 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516105418 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516116135 PRPF31 Health Risk Pathogenic —
RS2516116438 PRPF31 Health Risk Pathogenic —
RS2516116469 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2516117056 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516117275 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516117325 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2516117508 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516117809 PRPF31 Health Risk Pathogenic —
RS2516117976 NDUFAF5 Health Risk Pathogenic —
RS2516118563 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516119319 KCNQ2 Health Risk Pathogenic —
RS2516119519 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516126445 PRPF31 Health Risk Pathogenic —
RS2516139169 PRPF31 Health Risk Likely pathogenic —
RS2516141769 NDUFAF5 Health Risk Likely pathogenic —
RS2516142077 NDUFAF5 Health Risk Pathogenic —
RS2516142174 NDUFAF5 Health Risk Likely pathogenic —
RS2516145103 PRPF31;PRPF31-AS1 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa
RS2516145631 PRPF31 Health Risk Pathogenic —
RS2516151593 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516151783 NDUFAF5 Health Risk Pathogenic —
RS2516152365 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516152792 NDUFAF5 Health Risk Pathogenic —
RS2516152865 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516156843 PRPF31 Health Risk Pathogenic —
RS2516157956 PRPF31 Health Risk Pathogenic —
RS2516158518 PRPF31 Health Risk Pathogenic —
RS2516158865 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinal dystrophy
RS2516159042 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516161339 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516161436 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516161597 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516161728 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516161732 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516164716 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
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