Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151341424
rs151341424
TT 0.810 CausalMutation CLINVAR

dbSNP: rs118203958
rs118203958
A 0.700 CausalMutation CLINVAR

dbSNP: rs118203959
rs118203959
A 0.700 CausalMutation CLINVAR

dbSNP: rs118203960
rs118203960
A 0.700 CausalMutation CLINVAR

dbSNP: rs118203961
rs118203961
A 0.700 CausalMutation CLINVAR

dbSNP: rs118203962
rs118203962
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555457882
rs1555457882
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555457919
rs1555457919
CGG 0.700 CausalMutation CLINVAR

dbSNP: rs1567177198
rs1567177198
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1569119395
rs1569119395
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607096
rs267607096
T 0.700 CausalMutation CLINVAR

dbSNP: rs397514638
rs397514638
G 0.700 CausalMutation CLINVAR

dbSNP: rs397514639
rs397514639
T 0.700 CausalMutation CLINVAR

dbSNP: rs397518484
rs397518484
T 0.700 CausalMutation CLINVAR

dbSNP: rs606231125
rs606231125
C 0.700 CausalMutation CLINVAR

dbSNP: rs606231126
rs606231126
GG 0.700 CausalMutation CLINVAR

dbSNP: rs606231127
rs606231127
GC 0.700 CausalMutation CLINVAR

dbSNP: rs151341424
rs151341424
0.810 GeneticVariation UNIPROT Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. 17273977

2007

dbSNP: rs151341424
rs151341424
0.810 GeneticVariation UNIPROT Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. 17503335

2007

dbSNP: rs121913529
rs121913529
0.100 GeneticVariation BEFREE In situ hybridization analysis indicated miR-21 production to be concentrated in pathologic ductal cells. miR-21 production was regulated by KRAS(G12D) and epidermal growth factor receptor in PDAC-derived cell lines. 20093556

2010

dbSNP: rs151341424
rs151341424
0.810 GeneticVariation UNIPROT The STRA6 p.G304K mutation was subsequently detected in additional MCOPCB patients, including one individual with Matthew-Wood syndrome (MWS; MCOPS9). 21901792

2011

dbSNP: rs151341424
rs151341424
0.810 GeneticVariation BEFREE The STRA6 p.G304K mutation was subsequently detected in additional MCOPCB patients, including one individual with Matthew-Wood syndrome (MWS; MCOPS9). 21901792

2011

dbSNP: rs151341424
rs151341424
0.810 GeneticVariation UNIPROT Signaling by vitamin A and retinol-binding protein regulates gene expression to inhibit insulin responses. 21368206

2011

dbSNP: rs121913529
rs121913529
0.100 GeneticVariation BEFREE G12D K-Ras increased cleavage of p35 to p25, a stable and greater activator of CDK5, thus implicating a role for CDK5 in early progression of PDAC. 21825040

2011

dbSNP: rs1430937516
rs1430937516
0.010 GeneticVariation BEFREE G12D K-Ras increased cleavage of p35 to p25, a stable and greater activator of CDK5, thus implicating a role for CDK5 in early progression of PDAC. 21825040

2011