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
RS2141232621 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2141232639 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141232648 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2141232714 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141234826 CREBBP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2141234945 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141235101 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2141235124 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141235147 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141235242 FBN1 Health Risk Pathogenic/Likely pathogenic Acromicric dysplasia, Familial thoracic aortic aneurysm and aortic dissection
RS2141235258 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2141235271 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141235535 EFL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Shwachman syndrome
RS2141236949 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141237064 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2141237105 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141237128 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141237372 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2141240279 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2141240296 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141240388 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141240428 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141240456 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2141240489 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141240523 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141240851 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2141240902 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141240943 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141240946 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141240964 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2141240967 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2141241397 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141241409 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141241437 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141241487 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141241496 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2141241499 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141241529 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2141242375 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS2141244939 TERB2 Health Risk Pathogenic Spermatogenic failure 59, Spermatogenic failure 59
RS2141245408 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141245482 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141245523 FBN1 Health Risk Pathogenic/Likely pathogenic Isolated thoracic aortic aneurysm, Familial thoracic aortic aneurysm and aortic dissection
RS2141245531 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141245583 CREBBP Health Risk Likely pathogenic —
RS2141247044 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2141247434 CREBBP Health Risk Likely pathogenic —
RS2141247988 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141248001 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2141248004 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141248056 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2141248130 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2141248157 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141248174 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141248421 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2141248696 UBR1 Health Risk Pathogenic —
RS2141249066 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2141249167 FBN1 Health Risk Pathogenic —
RS2141249174 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141249218 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141249251 FBN1 Health Risk Pathogenic 8 conditions, 8 conditions
RS2141249297 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141250333 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141250394 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141252078 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
RS2141252143 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141252159 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2141252259 FBN1 Health Risk Pathogenic/Likely pathogenic Isolated thoracic aortic aneurysm, Marfan syndrome
RS2141255875 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141255919 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141255941 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141256009 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2141256027 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2141256037 FBN1 Health Risk Likely pathogenic Isolated thoracic aortic aneurysm, Isolated thoracic aortic aneurysm
RS2141256069 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141256088 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2141256116 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141260277 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2141260386 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2141260428 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2141260472 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141261531 LINS1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 27
RS2141262666 ADAMTS17 Health Risk Pathogenic —
RS2141262985 LINS1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 27
RS2141266590 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141266656 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS2141266677 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141266739 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
RS2141267582 FBN1 Health Risk Pathogenic —
RS2141267678 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2141267737 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141267795 FBN1 Health Risk Pathogenic —
RS2141269507 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141269534 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141269593 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141269618 FBN1 Health Risk Likely pathogenic Isolated thoracic aortic aneurysm, Isolated thoracic aortic aneurysm
RS2141269721 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141269730 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2141269766 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2141269777 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
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