Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151341424
rs151341424
STRA6
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
STRA6
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
STRA6
0.810 GeneticVariation UNIPROT Signaling by vitamin A and retinol-binding protein regulates gene expression to inhibit insulin responses. 21368206

2011
dbSNP: rs151341424
rs151341424
STRA6
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
STRA6
0.810 GeneticVariation UNIPROT Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. 17503335

2007
dbSNP: rs151341424
rs151341424
STRA6
TT 0.810 CausalMutation CLINVAR

dbSNP: rs144691445
rs144691445
STRA6
G 0.700 CausalMutation CLINVAR Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459

2016
dbSNP: rs869025269
rs869025269
STRA6
C 0.700 CausalMutation CLINVAR Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459

2016
dbSNP: rs118203958
rs118203958
STRA6
A 0.700 CausalMutation CLINVAR

dbSNP: rs118203959
rs118203959
STRA6
A 0.700 CausalMutation CLINVAR

dbSNP: rs118203960
rs118203960
STRA6
A 0.700 CausalMutation CLINVAR

dbSNP: rs118203961
rs118203961
STRA6
A 0.700 CausalMutation CLINVAR

dbSNP: rs118203962
rs118203962
STRA6
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555457882
rs1555457882
STRA6
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555457919
rs1555457919
STRA6
CGG 0.700 CausalMutation CLINVAR

dbSNP: rs1567177198
rs1567177198
STRA6
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1569119395
rs1569119395
WNT7B
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607096
rs267607096
STRA6
T 0.700 CausalMutation CLINVAR

dbSNP: rs397514638
rs397514638
STRA6
G 0.700 CausalMutation CLINVAR

dbSNP: rs397514639
rs397514639
STRA6
T 0.700 CausalMutation CLINVAR

dbSNP: rs397518484
rs397518484
STRA6
T 0.700 CausalMutation CLINVAR

dbSNP: rs606231125
rs606231125
STRA6
C 0.700 CausalMutation CLINVAR

dbSNP: rs606231126
rs606231126
STRA6
GG 0.700 CausalMutation CLINVAR

dbSNP: rs606231127
rs606231127
STRA6
GC 0.700 CausalMutation CLINVAR

dbSNP: rs121913529
rs121913529
KRAS
0.100 GeneticVariation BEFREE Hy15549 and Han4.13 cell lines were derived from primary murine PDAC (Ptf1-Cre; LSL-KRAS-G12D; Trp53 Lox/+) on C57BL/6 and FVB strains, respectively. 29903803

2018