rs886039506
|
0.882 |
0.160 |
9 |
127829770 |
stop gained |
G/A
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
9 |
2000 |
2014 |
rs1554810378
|
0.925 |
0.120 |
9 |
127825722 |
missense variant |
A/G
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
8 |
1999 |
2012 |
rs878853657
|
0.925 |
0.120 |
9 |
127826586 |
missense variant |
C/G
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
8 |
1998 |
2014 |
rs1060501410
|
0.925 |
0.120 |
9 |
127824800 |
missense variant |
C/T
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
2005 |
2016 |
rs1060501414
|
1.000 |
0.120 |
9 |
127825862 |
splice acceptor variant |
T/C
|
snv
|
|
7.0E-06
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
1994 |
2012 |
rs1252348200
|
1.000 |
0.120 |
9 |
127843168 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2004 |
2012 |
rs1554809516
|
1.000 |
0.120 |
9 |
127819952 |
missense variant |
C/T
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2001 |
2012 |
rs1554810490
|
1.000 |
0.120 |
9 |
127826522 |
stop gained |
G/A
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
1997 |
2005 |
rs1564455715
|
1.000 |
0.120 |
9 |
127824975 |
splice acceptor variant |
C/G
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2006 |
2014 |
rs1329127701
|
0.925 |
0.120 |
9 |
127824304 |
splice region variant |
C/T
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2005 |
2014 |
rs1564453019
|
1.000 |
0.120 |
9 |
127818797 |
frameshift variant |
AG/-
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2003 |
2012 |
rs1554809331
|
1.000 |
0.120 |
9 |
127818727 |
frameshift variant |
TCT/AC
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2000 |
2007 |
rs1554809448
|
1.000 |
0.120 |
9 |
127819622 |
splice region variant |
C/A;G
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
1998 |
2011 |
rs1554812253
|
1.000 |
0.120 |
9 |
127843093 |
splice donor variant |
C/T
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2006 |
2012 |
rs1564452759
|
1.000 |
0.120 |
9 |
127818379 |
splice acceptor variant |
T/C
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2006 |
2012 |
rs1564453538
|
1.000 |
0.120 |
9 |
127819904 |
frameshift variant |
T/-
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
1998 |
2007 |
rs1564455554
|
1.000 |
0.120 |
9 |
127824798 |
splice donor variant |
A/G
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2006 |
2012 |
rs373842615
|
0.925 |
0.120 |
9 |
127819662 |
splice acceptor variant |
T/C
|
snv
|
4.2E-06
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2006 |
2012 |
rs886039505
|
0.925 |
0.120 |
9 |
127829686 |
splice donor variant |
C/T
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
1997 |
2009 |
rs1060501408
|
1.000 |
0.120 |
9 |
127854482 |
5 prime UTR variant |
G/A
|
snv
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2011 |
2011 |
rs1064793734
|
1.000 |
0.120 |
9 |
127824314 |
frameshift variant |
CTTT/-
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2002 |
2010 |
rs1064794219
|
1.000 |
0.120 |
9 |
127825322 |
frameshift variant |
CTCAG/-
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2010 |
2011 |
rs1085307433
|
0.925 |
0.160 |
9 |
127818734 |
frameshift variant |
C/-
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2004 |
2004 |
rs1564452075
|
1.000 |
0.120 |
9 |
127817203 |
splice acceptor variant |
C/-
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs1564452747
|
1.000 |
0.120 |
9 |
127818371 |
frameshift variant |
CT/-
|
delins
|
|
|
Hereditary hemorrhagic telangiectasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
1998 |
2005 |