Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113422242
rs113422242
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.710 GeneticVariation BEFREE Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII. 10874320

2000
dbSNP: rs113422242
rs113422242
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.710 CausalMutation CLINVAR