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
RS2508187874 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508187935 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508188193 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508188418 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508188482 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2508188960 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508189341 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508189392 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508189422 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2508189597 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508189609 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508190953 POLR2A Health Risk Likely pathogenic —
RS2508191996 CDT1 Health Risk Pathogenic —
RS2508193346 CDT1 Health Risk Pathogenic Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4
RS2508195100 TAOK1 Health Risk Likely pathogenic Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS2508195156 TAOK1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2508196153 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2508196203 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2508196377 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508196422 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508196565 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508197024 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508197247 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508197417 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2508198774 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2508204500 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508204517 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2508205136 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508205254 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508205338 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508205699 TAOK1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2508205765 CDT1 Health Risk Likely pathogenic —
RS2508206130 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508206186 TAOK1 Health Risk Conflicting classifications of pathogenicity Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS2508206268 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508206458 POLR2A Health Risk Likely pathogenic —
RS2508206516 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508206711 TNFRSF13B Health Risk Likely pathogenic TNFRSF13B-related disorder, TNFRSF13B-related disorder
RS2508206796 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2508207106 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508207281 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508210150 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2508210940 TAOK1 Health Risk Likely pathogenic Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS2508210953 TAOK1 Health Risk Likely pathogenic TAOK1-related disorder, TAOK1-related disorder
RS2508211771 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2508212711 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508212733 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508212815 ELAC2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS2508212816 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508213627 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2508213801 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508213890 CDT1 Health Risk Pathogenic —
RS2508220694 KIF1C Health Risk Likely pathogenic Spastic ataxia 2, Spastic ataxia 2
RS2508223199 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508223282 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2508223334 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508223680 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508223710 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508223768 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508224095 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2508224147 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2508224307 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508224359 NF1 Health Risk Likely pathogenic Neurofibromatosis-Noonan syndrome, Neurofibromatosis-Noonan syndrome
RS2508224386 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508224532 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508225025 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508226129 PARN Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS2508226327 TAOK1 Health Risk Likely pathogenic Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS2508226400 TAOK1 Health Risk Likely pathogenic Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS2508226622 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2508226636 PMP22 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS2508227063 PMP22 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS2508228130 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS2508229196 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2508230175 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508230207 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508230498 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2508230531 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508230647 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508230803 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508230882 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2508230893 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508231433 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2508231517 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508231723 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2508231747 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508231766 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508231998 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508232078 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508232295 APRT Health Risk Likely pathogenic —
RS2508232361 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508232373 NF1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2508232397 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508232420 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2508232439 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508232527 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2508232557 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508232591 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508232797 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508233035 NF1 Health Risk Pathogenic NF1-related disorder, NF1-related disorder
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