Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307993
rs1085307993
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085308004
rs1085308004
G 0.700 CausalMutation CLINVAR

dbSNP: rs111854391
rs111854391
T 0.700 CausalMutation CLINVAR

dbSNP: rs112550005
rs112550005
A 0.700 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
A 0.700 CausalMutation CLINVAR

dbSNP: rs113812345
rs113812345
A 0.700 CausalMutation CLINVAR

dbSNP: rs1163944538
rs1163944538
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1232880706
rs1232880706
A 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
C 0.700 CausalMutation CLINVAR

dbSNP: rs137854461
rs137854461
C 0.700 CausalMutation CLINVAR

dbSNP: rs137854466
rs137854466
A 0.700 CausalMutation CLINVAR

dbSNP: rs137854467
rs137854467
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554122802
rs1554122802
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555398673
rs1555398673
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555735545
rs1555735545
A 0.700 CausalMutation CLINVAR

dbSNP: rs1558939623
rs1558939623
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1566911709
rs1566911709
C 0.700 CausalMutation CLINVAR

dbSNP: rs1566913974
rs1566913974
C 0.700 CausalMutation CLINVAR

dbSNP: rs193922219
rs193922219
T 0.700 CausalMutation CLINVAR

dbSNP: rs28937900
rs28937900
A 0.700 CausalMutation CLINVAR

dbSNP: rs397515789
rs397515789
T 0.700 CausalMutation CLINVAR

dbSNP: rs397515804
rs397515804
T 0.700 CausalMutation CLINVAR

dbSNP: rs771409809
rs771409809
T 0.700 CausalMutation CLINVAR

dbSNP: rs866294686
rs866294686
T 0.700 GeneticVariation CLINVAR

dbSNP: rs137854475
rs137854475
0.010 GeneticVariation BEFREE We have identified a novel missense mutation in exon 28 of the FBN1 gene (R1170H) which is responsible for an atypical marfanoid phenotype characterised by dolichostenomelia and arachnodactyly. 7870075

1994