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
RS2043779232 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2043785663 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2043791236 COL7A1 Health Risk Likely pathogenic —
RS2043792070 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2043792360 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2043792730 FBN1 Health Risk Likely pathogenic Marfan syndrome, Left ventricular diastolic dysfunction
RS2043796525 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2043800325 FBN1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2043801575 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome
RS2043845786 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2043846274 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2043846857 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2043856428 FMR1 Health Risk Likely pathogenic Fragile X syndrome, Fragile X syndrome
RS2043856489 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2043857269 LDLRAP1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2043858229 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2043860268 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS2043866331 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2043871373 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2043891482 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS2043898537 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2043899331 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS2043899828 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2043912235 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
RS2043913021 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2043913790 AXIN2 Health Risk Pathogenic/Likely pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2043915103 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2043915274 AXIN2 Health Risk Pathogenic AXIN2-related attenuated familial adenomatous polyposis, Oligodontia-cancer predisposition syndrome
RS2043917074 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2043920528 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Colorectal cancer
RS2043920614 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2043930740 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS2043933208 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2043937008 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2043944738 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2043946409 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2043947540 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2043953370 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS2043955269 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2043958892 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Nonpapillary renal cell carcinoma
RS2043960821 CLDN10 Health Risk Pathogenic/Likely pathogenic HELIX syndrome, HELIX syndrome
RS2043961502 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2043961707 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS2043963273 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2043963299 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2043966286 COL7A1 Health Risk Pathogenic —
RS2043981878 AXIN2 Health Risk Likely pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2043981901 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2043994405 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2043994986 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2043995619 FBN1 Health Risk Pathogenic —
RS2043995821 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2043995981 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2043996054 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2043996090 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2044011378 CCDC68 Health Risk Likely pathogenic Recurrent spontaneous abortion, Recurrent spontaneous abortion
RS2044013947 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044021734 ADGRG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2044025100 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2044025276 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2044026093 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2044026132 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2044026528 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2044041935 AXIN2 Health Risk Likely pathogenic —
RS2044043031 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS2044043566 ADGRG1 Health Risk Pathogenic/Likely pathogenic Bilateral frontoparietal polymicrogyria, Polymicrogyria
RS2044058094 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2044062314 COL7A1 Health Risk Pathogenic —
RS2044077001 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044079243 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044079791 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2044089924 COL7A1 Health Risk Likely pathogenic —
RS2044094510 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2044098060 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2044098988 COL7A1 Health Risk Likely pathogenic —
RS2044127544 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2044130662 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2044137351 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2044138456 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2044161691 LDLRAP1 Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2044162851 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2044163130 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2044164295 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS2044175577 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa dystrophica, 7 conditions
RS2044180453 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2044180572 TAT Health Risk Pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2044195570 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Abnormality of the skin
RS2044196815 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2044197900 TAT Health Risk Pathogenic/Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS2044198408 COL7A1 Health Risk Pathogenic —
RS2044199885 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2044200545 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2044200662 COL7A1 Health Risk Likely pathogenic —
RS2044206978 COL7A1 Health Risk Pathogenic —
RS2044208810 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044208947 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044209233 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS2044215489 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2044219708 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2044223568 LDLRAP1 Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
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