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
RS2042628623 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042628713 POLE Health Risk Pathogenic —
RS2042631091 POLE Health Risk Pathogenic —
RS2042651349 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2042657887 GRIN2A Health Risk Likely pathogenic —
RS2042659440 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2042665872 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
RS2042665950 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2042667149 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2042668476 POLE Health Risk Pathogenic —
RS2042674113 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2042722880 CDK5RAP2 Health Risk Pathogenic —
RS2042728719 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2042737188 POLE Health Risk Pathogenic —
RS2042746339 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2042746784 POLE Health Risk Pathogenic —
RS2042746920 POLE Health Risk Pathogenic —
RS2042747021 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2042759492 TRIM37 Health Risk Likely pathogenic TRIM37-related disorder, TRIM37-related disorder
RS2042772263 POLE Health Risk Conflicting classifications of pathogenicity POLE-related disorder, Hereditary cancer-predisposing syndrome
RS2042774602 POLE Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2042809582 OCA2 Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS2042823464 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042846526 POLE Health Risk Conflicting classifications of pathogenicity —
RS2042847630 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2042850660 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2042851617 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2042854251 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2042856892 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2042858025 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042860243 POLE Health Risk Likely pathogenic —
RS2042860621 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042861410 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042867733 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2042873946 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042874013 KIAA0586 Health Risk Likely pathogenic —
RS2042875800 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2042881907 TRIP12 Health Risk Pathogenic/Likely pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2042895751 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042898109 FBN1 Health Risk Likely pathogenic —
RS2042899128 SETD5 Health Risk Pathogenic —
RS2042902664 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2042915990 TLR7 Health Risk Pathogenic Immunodeficiency 74, COVID-19-related
RS2042921188 OCA2 Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS2042924766 OCA2 Health Risk Likely pathogenic —
RS2042934926 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2042941719 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2042942573 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2042942749 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2042945374 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042946001 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2042947612 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2042947658 POLE Health Risk Likely pathogenic —
RS2042947671 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042947959 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042955507 POLE Health Risk Likely pathogenic —
RS2042958176 POLE Health Risk Pathogenic —
RS2042958349 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042959627 POLE Health Risk Pathogenic —
RS2042970813 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042971166 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042971434 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042971962 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042971987 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2042972296 POLE Health Risk Pathogenic —
RS2042972321 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2042972341 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042973054 POLE Health Risk Likely pathogenic —
RS2042974444 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042974889 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042975774 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Abnormality of the musculature
RS2042976167 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042979418 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2042983140 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2042988482 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2042989627 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042990064 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2042997205 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2042997306 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042998789 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2042999551 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2043017030 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2043017257 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2043017379 FBN1 Health Risk Pathogenic —
RS2043017815 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2043018196 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2043024130 POLE Health Risk Pathogenic —
RS2043025774 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2043027132 POLE Health Risk Pathogenic —
RS2043027502 POLE Health Risk Likely pathogenic —
RS2043034543 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2043034575 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2043034865 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2043035646 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2043036914 POLE Health Risk Pathogenic —
RS2043042281 SETD2 Health Risk Likely pathogenic Acute megakaryoblastic leukemia without down syndrome, Acute megakaryoblastic leukemia without down syndrome
RS2043045437 POLE Health Risk Conflicting classifications of pathogenicity —
RS2043047870 POLE Health Risk Likely pathogenic —
RS2043050838 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2043056964 SETD2 Health Risk Pathogenic Luscan-Lumish syndrome, Luscan-Lumish syndrome
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