rs63750759
|
0.851 |
0.280 |
16 |
16154974 |
missense variant |
G/A;T
|
snv
|
1.9E-04;
5.4E-06
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.800 |
1.000 |
1 |
2012 |
2012 |
rs537233133
|
1.000 |
|
16 |
16188841 |
missense variant |
G/A;T
|
snv
|
2.3E-04
|
1.4E-05
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs72653758
|
0.925 |
0.160 |
16 |
16202113 |
missense variant |
A/C
|
snv
|
4.0E-06
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs72653762
|
0.851 |
0.240 |
16 |
16202006 |
missense variant |
T/C
|
snv
|
5.6E-03
|
4.7E-03
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs28939701
|
0.827 |
0.240 |
16 |
16163087 |
missense variant |
G/A
|
snv
|
4.4E-05
|
3.5E-05
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.700 |
|
0 |
|
|
rs387906859
|
0.925 |
0.160 |
16 |
16150765 |
missense variant |
G/T
|
snv
|
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.700 |
|
0 |
|
|
rs387906860
|
1.000 |
|
16 |
16219577 |
frameshift variant |
-/G
|
delins
|
5.1E-05
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.700 |
|
0 |
|
|
rs63749794
|
0.925 |
0.160 |
16 |
16163159 |
missense variant |
G/A
|
snv
|
9.2E-05
|
4.2E-05
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.700 |
|
0 |
|
|
rs63749856
|
0.851 |
0.200 |
16 |
16155010 |
missense variant |
C/T
|
snv
|
4.8E-05
|
2.8E-05
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.700 |
|
0 |
|
|
rs63750273
|
0.851 |
0.240 |
16 |
16157810 |
splice acceptor variant |
C/T
|
snv
|
4.1E-05
|
1.4E-05
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.700 |
|
0 |
|
|
rs63751001
|
0.790 |
0.240 |
16 |
16159555 |
missense variant |
C/T
|
snv
|
2.8E-05
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.700 |
|
0 |
|
|
rs67561842
|
0.925 |
0.160 |
16 |
16178919 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
3.6E-05
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.700 |
|
0 |
|
|
rs72650700
|
0.827 |
0.240 |
16 |
16190247 |
stop gained |
G/A;T
|
snv
|
4.4E-05;
4.0E-06
|
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.700 |
|
0 |
|
|
rs72653706
|
0.695 |
0.480 |
16 |
16163078 |
stop gained |
G/A
|
snv
|
1.4E-03
|
1.2E-03
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.700 |
|
0 |
|
|
rs72653772
|
0.807 |
0.320 |
16 |
16190246 |
missense variant |
C/T
|
snv
|
8.4E-05
|
1.1E-04
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.700 |
|
0 |
|
|
rs72664209
|
0.827 |
0.240 |
16 |
16173283 |
splice donor variant |
C/A
|
snv
|
8.0E-06;
1.2E-04
|
1.7E-04
|
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
|
|
0.700 |
|
0 |
|
|