rs1060501410
|
0.925 |
0.120 |
9 |
127824800 |
missense variant |
C/T
|
snv
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060501415
|
1.000 |
0.120 |
9 |
127825334 |
missense variant |
A/T
|
snv
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs111471193
|
1.000 |
0.120 |
9 |
127825230 |
splice donor variant |
C/T
|
snv
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1131691422
|
1.000 |
0.120 |
9 |
127819976 |
frameshift variant |
CT/-
|
del
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1131691444
|
1.000 |
0.120 |
9 |
127819977 |
frameshift variant |
T/-
|
del
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs116330805
|
1.000 |
0.120 |
9 |
127818296 |
missense variant |
C/T
|
snv
|
1.2E-03
|
3.0E-03
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1197761705
|
1.000 |
0.120 |
9 |
127818327 |
stop gained |
G/A;T
|
snv
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121918400
|
0.925 |
0.120 |
9 |
127824960 |
stop gained |
G/A;C;T
|
snv
|
8.0E-06
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121918402
|
1.000 |
0.120 |
9 |
127829687 |
stop gained |
G/A;T
|
snv
|
8.0E-05
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1329127701
|
0.925 |
0.120 |
9 |
127824304 |
splice region variant |
C/T
|
snv
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1434169817
|
1.000 |
0.120 |
9 |
127819624 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
|
0 |
|
|
rs1554810066
|
0.925 |
0.160 |
9 |
127824414 |
frameshift variant |
ATCGGTGCGG/-
|
delins
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554810408
|
0.925 |
0.120 |
9 |
127825792 |
inframe deletion |
CGCCACTCGAGC/-
|
delins
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554810506
|
1.000 |
0.120 |
9 |
127826625 |
frameshift variant |
T/-
|
del
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554813783
|
1.000 |
0.120 |
9 |
127854288 |
splice donor variant |
C/T
|
snv
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1564457752
|
1.000 |
0.120 |
9 |
127829683 |
splice region variant |
T/C
|
snv
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs267606783
|
0.925 |
0.120 |
9 |
127854354 |
start lost |
A/C;G
|
snv
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs759191907
|
0.776 |
0.360 |
9 |
127825225 |
splice region variant |
A/G
|
snv
|
8.0E-06
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs863223538
|
0.925 |
0.120 |
9 |
127818220 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
|
0 |
|
|
rs878853659
|
0.925 |
0.120 |
9 |
127843246 |
splice acceptor variant |
C/T
|
snv
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs886039505
|
0.925 |
0.120 |
9 |
127829686 |
splice donor variant |
C/T
|
snv
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs886039506
|
0.882 |
0.160 |
9 |
127829770 |
stop gained |
G/A
|
snv
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121918401
|
1.000 |
0.120 |
9 |
127819934 |
missense variant |
C/A;T
|
snv
|
8.0E-06
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
14 |
1994 |
2011 |
rs1554810378
|
0.925 |
0.120 |
9 |
127825722 |
missense variant |
A/G
|
snv
|
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
12 |
1994 |
2010 |
rs763475207
|
1.000 |
0.120 |
9 |
127818337 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Telangiectasia, Hereditary Hemorrhagic, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
12 |
1994 |
2010 |