Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607229
rs267607229
LTBP4
0.800 GeneticVariation UNIPROT Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. 19836010

2009
dbSNP: rs267607229
rs267607229
LTBP4
G 0.800 CausalMutation CLINVAR

dbSNP: rs606231161
rs606231161
LTBP4
GC 0.700 CausalMutation CLINVAR Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427

2013
dbSNP: rs747013505
rs747013505
LTBP4
C 0.700 CausalMutation CLINVAR Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427

2013
dbSNP: rs747013505
rs747013505
LTBP4
C 0.700 CausalMutation CLINVAR Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. 19836010

2009
dbSNP: rs1382026467
rs1382026467
LTBP4
T 0.700 CausalMutation CLINVAR

dbSNP: rs1568406407
rs1568406407
LTBP4
T 0.700 CausalMutation CLINVAR

dbSNP: rs267607228
rs267607228
LTBP4
A 0.700 CausalMutation CLINVAR

dbSNP: rs397515430
rs397515430
LTBP4
T 0.700 CausalMutation CLINVAR

dbSNP: rs606231159
rs606231159
LTBP4
C 0.700 CausalMutation CLINVAR

dbSNP: rs606231160
rs606231160
LTBP4
T 0.700 CausalMutation CLINVAR

dbSNP: rs797044471
rs797044471
LTBP4
GC 0.700 CausalMutation CLINVAR