Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515769
rs397515769
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 CausalMutation CLINVAR Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation. 11453977

2001
dbSNP: rs397515769
rs397515769
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.700 CausalMutation CLINVAR Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1. 10533071

1999