rs151341424
|
|
TT |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs118203958
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs118203959
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs118203960
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs118203961
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs118203962
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555457882
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555457919
|
|
CGG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1567177198
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1569119395
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs267607096
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs397514638
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs397514639
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs397518484
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs606231125
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs606231126
|
|
GG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs606231127
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
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 |
rs151341424
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.
|
17503335 |
2007 |
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 |
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 |
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 |
rs151341424
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Signaling by vitamin A and retinol-binding protein regulates gene expression to inhibit insulin responses.
|
21368206 |
2011 |
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 |
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 |