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
RS2509274346 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2509274419 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2509274602 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509274733 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2509274839 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS2509275021 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509275138 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509275155 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2509275252 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509275463 MED13 Health Risk Likely pathogenic Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS2509275684 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509275801 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2509275911 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509275974 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2509276003 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509276286 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509276392 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509276440 RAD51C Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS2509276500 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509276573 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2509277006 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509277010 MED13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2509277154 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2509277230 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2509277257 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2509277315 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2509277469 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2509277475 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS2509277695 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509277864 NAGS Health Risk Pathogenic/Likely pathogenic Hyperammonemia, type III
RS2509277915 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2509277941 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2509278357 POLG Health Risk Likely pathogenic —
RS2509279402 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2509279497 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2509279961 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2509280209 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2509280484 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2509280530 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2509280602 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS2509281199 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509281503 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2509281618 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2509281642 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509281686 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509281752 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2509281880 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509281902 MED13 Health Risk Pathogenic Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS2509282138 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509282144 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS2509282203 MED13 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS2509282650 MED13 Health Risk Likely pathogenic MED13-related disorder, MED13-related disorder
RS2509282682 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2509283109 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509283244 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509283306 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2509283402 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2509283438 NAGS Health Risk Pathogenic/Likely pathogenic Hyperammonemia, type III
RS2509283453 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509283581 RAD51C Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2509283705 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2509283811 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2509283908 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2509284285 SCN4A Health Risk Pathogenic Congenital myopathy 22B, severe fetal
RS2509284731 SRSF1 Health Risk Pathogenic Intellectual disability, Neurodevelopmental delay
RS2509284743 DGKE Health Risk Pathogenic —
RS2509284749 SRSF1 Health Risk Pathogenic Intellectual disability, Neurodevelopmental delay
RS2509285055 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2509285181 SCN4A Health Risk Likely pathogenic Paramyotonia congenita of Von Eulenburg, Paramyotonia congenita of Von Eulenburg
RS2509285182 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2509285208 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2509285270 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2509285298 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2509285308 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2509285379 SCN4A Health Risk Likely pathogenic Congenital myopathy 22B, severe fetal
RS2509285683 SRSF1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, Intellectual disability
RS2509285717 SRSF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2509286735 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 7 conditions
RS2509287238 SRSF1 Health Risk Pathogenic Intellectual disability, Neurodevelopmental delay
RS2509287507 PNPO Health Risk Likely pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS2509287599 SRSF1 Health Risk Pathogenic Intellectual disability, Neurodevelopmental delay
RS2509287701 SRSF1 Health Risk Pathogenic Intellectual disability, Neurodevelopmental delay
RS2509287979 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2509289236 SCN4A Health Risk Likely pathogenic Congenital myopathy 22B, severe fetal
RS2509290322 SRSF1 Health Risk Pathogenic Intellectual disability, Neurodevelopmental delay
RS2509290420 SRSF1 Health Risk Pathogenic Intellectual disability, Neurodevelopmental delay
RS2509290730 SCN4A Health Risk Pathogenic Congenital myopathy 22A, classic
RS2509291006 SCN4A Health Risk Likely pathogenic Potassium-aggravated myotonia, Potassium-aggravated myotonia
RS2509291040 SCN4A Health Risk Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2509291965 PNPO Health Risk Likely pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS2509293167 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2509293410 PNPO Health Risk Pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS2509293643 PNPO Health Risk Pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS2509294585 PNPO Health Risk Pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS2509299260 DGKE Health Risk Pathogenic —
RS2509299416 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS2509299426 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2509299464 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2509299493 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B
RS2509299617 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, RAD51C-related disorder
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