rs121918472
|
0.925 |
0.040 |
3 |
93879306 |
missense variant |
A/C;G
|
snv
|
1.2E-05;
2.0E-03
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
21 |
1994 |
2010 |
rs1302089144
|
1.000 |
|
3 |
93874280 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
20 |
1994 |
2008 |
rs750531364
|
1.000 |
|
3 |
93877004 |
missense variant |
A/G
|
snv
|
4.0E-06
|
7.0E-06
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
|
0 |
|
|
rs7614835
|
1.000 |
|
3 |
93927365 |
missense variant |
C/A;T
|
snv
|
1.7E-03;
1.4E-04
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
20 |
1994 |
2008 |
rs368074804
|
1.000 |
|
3 |
93898570 |
splice acceptor variant |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
|
0 |
|
|
rs557733421
|
1.000 |
|
3 |
93924240 |
missense variant |
C/G
|
snv
|
4.9E-06
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
20 |
1994 |
2008 |
rs1223579199
|
1.000 |
|
3 |
93892946 |
missense variant |
C/T
|
snv
|
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
20 |
1994 |
2008 |
rs144526169
|
1.000 |
|
3 |
93910681 |
missense variant |
C/T
|
snv
|
3.4E-04
|
3.9E-04
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
20 |
1994 |
2008 |
rs1455675811
|
1.000 |
|
3 |
93898552 |
missense variant |
C/T
|
snv
|
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
20 |
1994 |
2008 |
rs200886866
|
1.000 |
|
3 |
93910696 |
missense variant |
C/T
|
snv
|
2.0E-05
|
2.8E-05
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
20 |
1994 |
2008 |
rs780863931
|
1.000 |
|
3 |
93893024 |
missense variant |
C/T
|
snv
|
1.6E-05
|
1.4E-05
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
20 |
1994 |
2008 |
rs941433523
|
1.000 |
|
3 |
93893019 |
missense variant |
C/T
|
snv
|
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
20 |
1994 |
2008 |
rs779391826
|
1.000 |
|
3 |
93905828 |
splice donor variant |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
|
0 |
|
|
rs963668412
|
0.925 |
0.040 |
3 |
93927362 |
missense variant |
C/T
|
snv
|
8.0E-06
|
1.4E-05
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
|
0 |
|
|
rs1220553873
|
1.000 |
|
3 |
93874276 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
20 |
1994 |
2008 |
rs202190731
|
1.000 |
|
3 |
93874387 |
missense variant |
G/A
|
snv
|
1.8E-04
|
6.3E-05
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
20 |
1994 |
2008 |
rs778731080
|
1.000 |
|
3 |
93910664 |
missense variant |
G/A
|
snv
|
1.6E-05
|
2.1E-05
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
20 |
1994 |
2008 |
rs121918475
|
1.000 |
|
3 |
93898462 |
stop gained |
G/A
|
snv
|
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
|
0 |
|
|
rs199469500
|
1.000 |
|
3 |
93879264 |
missense variant |
G/A
|
snv
|
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
|
0 |
|
|
rs387906674
|
0.925 |
0.040 |
3 |
93893025 |
missense variant |
G/A
|
snv
|
2.0E-05
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
|
0 |
|
|
rs6122
|
0.925 |
|
3 |
93927251 |
missense variant |
G/A
|
snv
|
5.2E-05
|
2.8E-05
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
|
0 |
|
|
rs765935815
|
1.000 |
|
3 |
93910697 |
missense variant |
G/A
|
snv
|
1.6E-05
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
|
0 |
|
|
rs121918476
|
1.000 |
|
3 |
93877155 |
missense variant |
G/A;C
|
snv
|
1.6E-05
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
20 |
1994 |
2008 |
rs146366248
|
1.000 |
|
3 |
93906059 |
missense variant |
G/A;T
|
snv
|
4.0E-06;
7.7E-04
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
21 |
1994 |
2010 |
rs778685576
|
1.000 |
|
3 |
93874282 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
|
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
|
|
0.700 |
1.000 |
20 |
1994 |
2008 |