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
RS1567556386 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1567556454 TP53 Health Risk Pathogenic Ovarian neoplasm, Li-Fraumeni syndrome
RS1567556576 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1567556618 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1567556752 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neoplasm
RS1567556784 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567556914 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567556930 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Neoplasm
RS1567556956 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome
RS1567557016 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1567557177 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1567557258 TP53 Health Risk Pathogenic Ovarian neoplasm, Li-Fraumeni syndrome 1
RS1567557697 MYH3 Health Risk Likely pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS1567558112 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1567558314 MYH3 Health Risk Pathogenic Contractures, pterygia
RS1567559027 MYH3 Health Risk Likely pathogenic Arthrogryposis, distal
RS1567559562 MYH3 Health Risk Likely pathogenic Contractures, pterygia
RS1567559851 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS1567560080 MYH3 Health Risk Likely pathogenic Contractures, pterygia
RS1567560601 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1567560718 MYH3 Health Risk Conflicting classifications of pathogenicity —
RS1567561137 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS1567561598 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1567563311 ACADVL Health Risk Likely pathogenic —
RS1567564042 MYH3 Health Risk Pathogenic Contractures, pterygia
RS1567564499 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1567565643 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1567565733 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1567566026 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1567566228 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1567567249 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS1567567440 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS1567568217 NUP88 Health Risk Pathogenic Fetal akinesia deformation sequence 4, Fetal akinesia deformation sequence 4
RS1567569262 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1567571065 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1567571075 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1567571141 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1567571184 FOXC2 Health Risk Pathogenic/Likely pathogenic Distichiasis-lymphedema syndrome, Inborn genetic diseases
RS1567571276 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1567571345 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1567571360 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1567571564 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Non-immune hydrops fetalis
RS1567571636 FOXC2 Health Risk Pathogenic LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS
RS1567571702 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1567571823 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1567571863 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1567571990 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1567572265 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1567573538 ANKRD11 Health Risk Pathogenic —
RS1567574291 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1567574466 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1567575193 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Retinitis pigmentosa 74
RS1567576202 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1567578243 ANKRD11 Health Risk Pathogenic —
RS1567579092 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1567579525 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1567583835 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1567584842 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS1567591276 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS1567592494 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1567592815 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1567593047 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1567598479 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1567598488 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1567599296 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1567599993 CTC1 Health Risk Pathogenic/Likely pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS1567601223 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1567601355 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1567601557 FANCA Health Risk Likely pathogenic Fanconi anemia, Neurodevelopmental abnormality
RS1567603987 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Inborn genetic diseases
RS1567604012 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS1567604571 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1567607328 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1567607653 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1567607736 CYBA Health Risk Pathogenic —
RS1567608510 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2
RS1567608718 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1567608830 CYBA Health Risk Likely pathogenic Granulomatous disease, chronic
RS1567608853 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS1567608876 CTCF Health Risk Pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS1567609067 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS1567609091 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS1567609103 CTC1 Health Risk Pathogenic —
RS1567609845 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1567610917 CTCF Health Risk Conflicting classifications of pathogenicity CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS1567611231 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567611281 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567611351 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567611375 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567611380 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567611457 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567611496 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1567611587 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567611604 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567612415 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567612435 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567612483 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567612488 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567612531 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567612641 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
« Prev 1 ... 1008 1009 1010 1011 1012 1013 1014 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →