rs190590338 |
G>A
|
Promoter - n.a |
n.a. |
n.o. |
0 |
<1 |
0 |
Higher MASP-1 levels in G/A (Ammitzbøll et al., 2013Ammitzbøll CG, Steffensen R, Jørgen Nielsen H, Thiel S, Stengaard-Pedersen K, Bøgsted M and Jensenius JC (2013) Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44. PLoS One 8:e73317.) |
rs7625133
|
A>C
|
Promoter - n.a |
n.a. |
n.o. |
2.4 |
6.4 |
<1 |
Lower MAp44 levels in A/C and C/C (Ammitzbøll et al., 2013Ammitzbøll CG, Steffensen R, Jørgen Nielsen H, Thiel S, Stengaard-Pedersen K, Bøgsted M and Jensenius JC (2013) Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44. PLoS One 8:e73317.) |
rs35089177
|
T>A
|
Promoter - n.a |
n.a. |
n.o. |
6.3 |
34.3 |
38 |
Lower MASP-1 and MAp44 levels in T/A and AA (Ammitzbøll et al., 2013Ammitzbøll CG, Steffensen R, Jørgen Nielsen H, Thiel S, Stengaard-Pedersen K, Bøgsted M and Jensenius JC (2013) Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44. PLoS One 8:e73317.) |
rs75284004 |
A>G
|
Promoter - n.a |
n.a. |
n.o. |
<1 |
4.1 |
<1 |
Lower MASP-3 levels in A/G (Ammitzbøll et al., 2013Ammitzbøll CG, Steffensen R, Jørgen Nielsen H, Thiel S, Stengaard-Pedersen K, Bøgsted M and Jensenius JC (2013) Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44. PLoS One 8:e73317.) |
rs62292785 |
G>A
|
Promoter - n.a |
n.a. |
n.o. |
4.8 |
5.6 |
18.8 |
Lower MASP-1 levels in G/A (Ammitzbøll et al., 2013Ammitzbøll CG, Steffensen R, Jørgen Nielsen H, Thiel S, Stengaard-Pedersen K, Bøgsted M and Jensenius JC (2013) Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44. PLoS One 8:e73317.) |
rs72549254
|
G>A
|
Intron 1 - n.a |
n.a. |
13.3 |
21.9 |
13.9 |
11.7 |
Higher MASP-3 levels in A/G (Ammitzbøll et al., 2013Ammitzbøll CG, Steffensen R, Jørgen Nielsen H, Thiel S, Stengaard-Pedersen K, Bøgsted M and Jensenius JC (2013) Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44. PLoS One 8:e73317.) Lower MAp44 levels in A/G and A/A (Ammitzbøll et al., 2013Ammitzbøll CG, Steffensen R, Jørgen Nielsen H, Thiel S, Stengaard-Pedersen K, Bøgsted M and Jensenius JC (2013) Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44. PLoS One 8:e73317.) Lower MAp44 levels in G/G (Krogh et al., 2017Krogh SS, Holt CB, Steffensen R, Funck KL, Høyem P, Laugesen E, Poulsen PL, Thiel S and Hansen TK (2017) Plasma levels of MASP-1, MASP-3 and MAp44 in patients with type 2 diabetes: influence of glycaemic control, body composition and polymorphisms in the MASP1 gene. Clin Exp Immunol 189:103-112.) |
rs710469 |
C>T
|
Intron 2 - n.a |
n.a. |
n.o. |
35.4 |
50.5 |
51.1 |
Higher on-admission MASP-3 levels in critically ill children with T/T (Ammitzbøll et al., 2013Ammitzbøll CG, Steffensen R, Jørgen Nielsen H, Thiel S, Stengaard-Pedersen K, Bøgsted M and Jensenius JC (2013) Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44. PLoS One 8:e73317.) |
rs3774275
|
A>G
|
Intron 8 - n.a |
n.a. |
18.5 |
2.1 |
30.8 |
41.8 |
Higher MASP-1, Map44 and lower MASP-3 levels in A/G and G/G (Ammitzbøll et al., 2013Ammitzbøll CG, Steffensen R, Jørgen Nielsen H, Thiel S, Stengaard-Pedersen K, Bøgsted M and Jensenius JC (2013) Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44. PLoS One 8:e73317.) Lower MASP-1 and MAp44 levels in A/A (Krogh et al., 2017Krogh SS, Holt CB, Steffensen R, Funck KL, Høyem P, Laugesen E, Poulsen PL, Thiel S and Hansen TK (2017) Plasma levels of MASP-1, MASP-3 and MAp44 in patients with type 2 diabetes: influence of glycaemic control, body composition and polymorphisms in the MASP1 gene. Clin Exp Immunol 189:103-112.) |
rs113938200 |
C>T
|
Exon 9 - C-terminal MAp-44 |
p.Asn368Asp |
<1 |
0 |
<1 |
0 |
Lower MAp44 levels in C/T (Ammitzbøll et al., 2013Ammitzbøll CG, Steffensen R, Jørgen Nielsen H, Thiel S, Stengaard-Pedersen K, Bøgsted M and Jensenius JC (2013) Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44. PLoS One 8:e73317.) |
rs698090 |
C>T
|
Exon 9 - 3’UTR Map-44 |
n.a. |
37.4 |
62.4 |
35.8 |
37.6 |
Higher MASP-1, MAp44 and lower MASP-3 levels in C/C (Ammitzbøll et al., 2013Ammitzbøll CG, Steffensen R, Jørgen Nielsen H, Thiel S, Stengaard-Pedersen K, Bøgsted M and Jensenius JC (2013) Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44. PLoS One 8:e73317.) Higher MAp44 levels in C/T (Ammitzbøll et al., 2013) |
rs72549154 |
G>T
|
Exon 12 - SP MASP-3 |
p.Arg576Met |
<1 |
15.1 |
2.5 |
<1 |
Lower MASP-1 levels in G/T (Ammitzbøll et al., 2013Ammitzbøll CG, Steffensen R, Jørgen Nielsen H, Thiel S, Stengaard-Pedersen K, Bøgsted M and Jensenius JC (2013) Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44. PLoS One 8:e73317.) |
rs850312 |
G>A
|
Exon 12 - CCP2 MASP-3 |
p.Leu617Leu |
27.2 |
2.6 |
34.8 |
20.3 |
Higher on-admission MASP-3 levels in critically ill children with A/A, A/G (Ammitzbøll et al., 2013Ammitzbøll CG, Steffensen R, Jørgen Nielsen H, Thiel S, Stengaard-Pedersen K, Bøgsted M and Jensenius JC (2013) Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44. PLoS One 8:e73317.) Lower MASP-3 and higher Map44 levels in G/G (Krogh et al., 2017Krogh SS, Holt CB, Steffensen R, Funck KL, Høyem P, Laugesen E, Poulsen PL, Thiel S and Hansen TK (2017) Plasma levels of MASP-1, MASP-3 and MAp44 in patients with type 2 diabetes: influence of glycaemic control, body composition and polymorphisms in the MASP1 gene. Clin Exp Immunol 189:103-112.) |
rs67143992 |
G>A
|
Exon12 - 3’ UTR MASP-3 |
n.a. |
12.9 |
1.4 |
16.9 |
4.5 |
Higher MASP-1, MAp44 and lower of MASP-3 levels in G/A (Ammitzbøll et al., 2013Ammitzbøll CG, Steffensen R, Jørgen Nielsen H, Thiel S, Stengaard-Pedersen K, Bøgsted M and Jensenius JC (2013) Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44. PLoS One 8:e73317.) Higher MAp44 and lower MASP-3 levels in A/A (Ammitzbøll et al., 2013Ammitzbøll CG, Steffensen R, Jørgen Nielsen H, Thiel S, Stengaard-Pedersen K, Bøgsted M and Jensenius JC (2013) Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44. PLoS One 8:e73317.) Lower MASP-3 levels in A/A (Krogh et al., 2017Krogh SS, Holt CB, Steffensen R, Funck KL, Høyem P, Laugesen E, Poulsen PL, Thiel S and Hansen TK (2017) Plasma levels of MASP-1, MASP-3 and MAp44 in patients with type 2 diabetes: influence of glycaemic control, body composition and polymorphisms in the MASP1 gene. Clin Exp Immunol 189:103-112.) |
rs874603
|
G>A
|
3’ UTR MASP-3 |
n.a. |
12.4 |
36.2 |
5.7 |
0.8 |
Higher MASP-3 levels in G/A (Krogh et al., 2017Krogh SS, Holt CB, Steffensen R, Funck KL, Høyem P, Laugesen E, Poulsen PL, Thiel S and Hansen TK (2017) Plasma levels of MASP-1, MASP-3 and MAp44 in patients with type 2 diabetes: influence of glycaemic control, body composition and polymorphisms in the MASP1 gene. Clin Exp Immunol 189:103-112.) |