rs2036914
|
0.882 |
0.160 |
4 |
186271327 |
intron variant |
T/C
|
snv
|
|
0.57
|
Venous Thromboembolism
|
Cardiovascular Diseases
|
0.830 |
1.000 |
5 |
2011 |
2019 |
rs121965064
|
0.925 |
0.080 |
4 |
186280258 |
missense variant |
T/C
|
snv
|
1.1E-03
|
6.4E-04
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.810 |
1.000 |
26 |
1989 |
2019 |
rs3756008
|
|
|
4 |
186264231 |
upstream gene variant |
A/T
|
snv
|
|
0.36
|
Venous Thromboembolism
|
Cardiovascular Diseases
|
0.810 |
1.000 |
3 |
2011 |
2014 |
rs281875275
|
1.000 |
0.080 |
4 |
186287800 |
missense variant |
G/A
|
snv
|
|
1.4E-05
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
26 |
1989 |
2019 |
rs1554083754
|
1.000 |
0.080 |
4 |
186285811 |
missense variant |
C/T
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
25 |
1989 |
2015 |
rs139695003
|
1.000 |
0.080 |
4 |
186287720 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
8.7E-05
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
23 |
1989 |
2019 |
rs121965069
|
1.000 |
0.080 |
4 |
186271719 |
missense variant |
T/C
|
snv
|
1.2E-05
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
22 |
1989 |
2015 |
rs121965070
|
1.000 |
0.080 |
4 |
186280065 |
missense variant |
A/T
|
snv
|
5.0E-04
|
5.4E-04
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
22 |
1989 |
2015 |
rs121965071
|
1.000 |
0.080 |
4 |
186284209 |
missense variant |
G/A;C;T
|
snv
|
4.0E-06;
4.0E-06;
8.0E-06
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
22 |
1989 |
2015 |
rs281875245
|
1.000 |
0.080 |
4 |
186276299 |
missense variant |
G/A;T
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
21 |
1989 |
2019 |
rs281875257
|
1.000 |
0.080 |
4 |
186280300 |
missense variant |
G/A
|
snv
|
2.0E-05
|
5.6E-05
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
21 |
1989 |
2019 |
rs281875272
|
1.000 |
0.080 |
4 |
186273154 |
missense variant |
A/G
|
snv
|
1.2E-05
|
1.4E-05
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
21 |
1989 |
2019 |
rs28934608
|
0.925 |
0.160 |
4 |
186280333 |
missense variant |
C/T
|
snv
|
2.4E-05
|
2.1E-05
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
21 |
1989 |
2019 |
rs28934609
|
1.000 |
0.080 |
4 |
186288518 |
missense variant |
C/A;T
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
21 |
1989 |
2019 |
rs121965065
|
1.000 |
0.080 |
4 |
186285711 |
missense variant |
T/G
|
snv
|
4.0E-06
|
1.4E-05
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
20 |
1989 |
2015 |
rs121965067
|
1.000 |
0.080 |
4 |
186284167 |
missense variant |
C/A
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
20 |
1989 |
2015 |
rs121965068
|
1.000 |
0.080 |
4 |
186284245 |
missense variant |
C/T
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
20 |
1989 |
2015 |
rs121965072
|
1.000 |
0.080 |
4 |
186288496 |
missense variant |
G/C
|
snv
|
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
20 |
1989 |
2015 |
rs281875250
|
1.000 |
0.080 |
4 |
186288460 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
20 |
1989 |
2015 |
rs281875251
|
1.000 |
0.080 |
4 |
186288525 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
20 |
1989 |
2015 |
rs768474112
|
1.000 |
0.080 |
4 |
186273177 |
splice donor variant |
G/A
|
snv
|
2.0E-05
|
2.1E-05
|
Hereditary Factor XI Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
5 |
2006 |
2011 |
rs4253417
|
|
|
4 |
186277851 |
intron variant |
T/C;G
|
snv
|
|
|
Venous Thromboembolism
|
Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
2011 |
2019 |
rs4253399
|
|
|
4 |
186266940 |
intron variant |
T/G
|
snv
|
|
0.30
|
Venous Thromboembolism
|
Cardiovascular Diseases
|
0.800 |
1.000 |
2 |
2011 |
2013 |
rs1593
|
|
|
4 |
186274397 |
3 prime UTR variant |
T/A;G
|
snv
|
|
|
Activated Partial Thromboplastin Time measurement
|
|
0.800 |
1.000 |
1 |
2012 |
2012 |
rs2289252
|
1.000 |
0.040 |
4 |
186286227 |
non coding transcript exon variant |
C/T
|
snv
|
|
0.35
|
Activated Partial Thromboplastin Time measurement
|
|
0.800 |
1.000 |
1 |
2012 |
2012 |