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
RS1566811476 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1566815070 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1566815386 NALCN Health Risk Likely pathogenic —
RS1566816174 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1566821779 UBR7 Health Risk Pathogenic Li-Campeau syndrome, Li-Campeau syndrome
RS1566823361 FGF14 Health Risk Likely pathogenic —
RS1566824608 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS1566824771 BUB1B Health Risk Pathogenic; Affects Mosaic variegated aneuploidy syndrome 1, Premature chromatid separation trait
RS1566824774 BUB1B Health Risk Pathogenic; Affects Mosaic variegated aneuploidy syndrome 1, Premature chromatid separation trait
RS1566825063 UBE3A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1566825424 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1566825554 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 2
RS1566826570 BUB1B Health Risk Pathogenic; Affects Mosaic variegated aneuploidy syndrome 1, Premature chromatid separation trait
RS1566827747 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS1566829097 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome type 2
RS1566830754 BUB1B Health Risk Likely pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS1566831190 SOS2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 9
RS1566831299 TTLL5 Health Risk Pathogenic —
RS1566833256 TSHR Health Risk Likely pathogenic —
RS1566838168 SPG11 Health Risk Likely pathogenic —
RS1566838280 SPG11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1566839401 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Bardet-Biedl syndrome
RS1566842679 GATM Health Risk Likely pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS1566843312 KIAA0586 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS1566843321 TRIP11 Health Risk Likely pathogenic Odontochondrodysplasia 1, Odontochondrodysplasia 1
RS1566847499 RDH12 Health Risk Conflicting classifications of pathogenicity Macular dystrophy, Retinal dystrophy
RS1566849516 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS1566857461 SLC12A1 Health Risk Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS1566859264 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS1566859649 TRIP11 Health Risk Pathogenic Odontochondrodysplasia 1, Odontochondrodysplasia 1
RS1566860640 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS1566861493 SLC12A1 Health Risk Pathogenic/Likely pathogenic —
RS1566863801 TRIP11 Health Risk Likely pathogenic Odontochondrodysplasia 1, Odontochondrodysplasia 1
RS1566867209 SPRED1 Health Risk Pathogenic Legius syndrome, Cardiovascular phenotype
RS1566867246 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS1566867763 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS1566868022 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS1566868058 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS1566876690 SPRED1 Health Risk Likely pathogenic Legius syndrome, Legius syndrome
RS1566876895 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS1566876929 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS1566876941 SPRED1 Health Risk Pathogenic Legius syndrome, Cardiovascular phenotype
RS1566876954 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS1566877075 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Noonan syndrome
RS1566880361 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS1566881181 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia, Spastic paraplegia
RS1566883760 KIAA0586 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1566888340 VSX2 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1566888689 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566888718 FBN1 Health Risk Pathogenic Progeroid and marfanoid aspect-lipodystrophy syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome
RS1566889188 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1566889870 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1566890005 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1566891404 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566891406 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1566891436 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566891454 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1566891645 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1566891654 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1566891655 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1566891668 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566891675 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566891701 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566891706 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566891797 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1566891808 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1566891846 FBN1 Health Risk Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS1566892727 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566892735 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Familial thoracic aortic aneurysm and aortic dissection
RS1566892757 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1566892872 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1566892883 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1566892906 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566892915 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566893090 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1566893738 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1566894226 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1566894230 FBN1 Health Risk Pathogenic Acute aortic dissection, Congenital aneurysm of ascending aorta
RS1566894262 FBN1 Health Risk Pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS1566894288 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1566894318 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1566894334 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566894783 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1566895223 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1566895225 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1566895262 FBN1 Health Risk Likely pathogenic Marfan syndrome, 8 conditions
RS1566895263 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566896070 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566896114 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1566896395 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1566897374 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566897376 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1566897404 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1566897420 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1566898120 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1566898144 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566898399 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1566898741 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1566898786 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1566898828 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
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