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
RS2536301748 CNTNAP2 Health Risk Pathogenic Inborn genetic diseases, Cortical dysplasia-focal epilepsy syndrome
RS2536301962 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536304713 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536306786 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Inherited MMR deficiency (Lynch syndrome)
RS2536310605 SOX17 Health Risk Likely pathogenic Sox17- related disorders, Sox17- related disorders
RS2536310659 SOX17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2536316406 CUX1 Health Risk Pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS2536319279 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2536319634 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536320697 PMS2 Health Risk Likely pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536321183 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2536322400 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536323868 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536324863 PMS2 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome
RS2536325533 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536326179 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2536326564 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2536327300 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536327415 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2536327971 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2536328379 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2536329598 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy
RS2536334836 EZH2 Health Risk Likely pathogenic Weaver syndrome, Weaver syndrome
RS2536368699 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2536369054 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2536369263 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome 9, Early onset severe obesity
RS2536369378 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2536369452 ADAM9 Health Risk Pathogenic —
RS2536370797 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2536381910 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536385595 KMT2E Health Risk Pathogenic —
RS2536387265 TULP3 Health Risk Pathogenic Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis
RS2536389836 TMEM70 Health Risk Pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS2536392822 TMEM70 Health Risk Likely pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS2536392852 TMEM70 Health Risk Pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS2536395934 TMEM70 Health Risk Pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS2536395943 TMEM70 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS2536397734 EZH2 Health Risk Likely pathogenic Childhood neoplasm, Hereditary cancer-predisposing syndrome
RS2536399953 DST Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Hereditary sensory and autonomic neuropathy type 6
RS2536400339 ZFHX4 Health Risk Pathogenic —
RS2536414666 DYNC2I1 Health Risk Pathogenic Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly
RS2536417191 KMT2E Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2536420410 KMT2E Health Risk Pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536427883 KMT2E Health Risk Pathogenic —
RS2536428687 KMT2E Health Risk Pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536431876 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536432550 KMT2E Health Risk Pathogenic/Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536434515 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2536435681 PMS2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS2536436605 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536440492 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536443134 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536444783 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2536445489 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536447248 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536447695 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2536448295 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536450385 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536450599 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536452478 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2536453194 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536453645 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2536455432 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2536455654 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536461669 KMT2E Health Risk Likely pathogenic —
RS2536461799 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536462068 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536462095 KMT2E Health Risk Pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536465125 KMT2E Health Risk Pathogenic —
RS2536465540 KMT2E Health Risk Pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536477168 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2536489629 CA2 Health Risk Pathogenic Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
RS2536489640 CA2 Health Risk Pathogenic/Likely pathogenic Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
RS2536490639 KMT2E Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2536490764 KMT2E Health Risk Pathogenic See cases, See cases
RS2536493517 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2536493646 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2536493815 KMT2E Health Risk Pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536493825 KMT2E Health Risk Likely pathogenic —
RS2536494418 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536495735 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536496345 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2536496563 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536497437 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2536497774 PMS2 Health Risk Likely pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536499180 PMS2 Health Risk Likely pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536499491 PMS2 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2536500457 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2536500736 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2536500972 PMS2 Health Risk Pathogenic Lynch syndrome 4, Hereditary cancer-predisposing syndrome
RS2536501303 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536502995 KMT2E Health Risk Pathogenic Inborn genetic diseases, O'Donnell-Luria-Rodan syndrome
RS2536503473 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS2536504223 KMT2E Health Risk Pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536506052 KMT2E Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2536506247 KMT2E Health Risk Pathogenic —
RS2536506538 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536506721 KMT2E Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2536508193 KMT2E Health Risk Pathogenic —
RS2536509325 KMT2E Health Risk Pathogenic —
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