rs397518413
|
0.882 |
0.400 |
18 |
51078294 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
13 |
2004 |
2016 |
rs11875522
|
|
|
18 |
51065392 |
intron variant |
G/A
|
snv
|
1.1E-02
|
4.8E-02
|
High density lipoprotein measurement
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs11875522
|
|
|
18 |
51065392 |
intron variant |
G/A
|
snv
|
1.1E-02
|
4.8E-02
|
Serum HDL cholesterol measurement
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs12455792
|
|
|
18 |
51046270 |
intron variant |
C/A;T
|
snv
|
|
|
Aortic Diseases
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1343555503
|
1.000 |
0.040 |
18 |
51058364 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Aortic Aneurysm
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs121912580
|
0.807 |
0.280 |
18 |
51067036 |
missense variant |
G/A;C;T
|
snv
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
1 |
2004 |
2004 |
rs121912581
|
0.925 |
0.200 |
18 |
51065521 |
missense variant |
G/A
|
snv
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
1 |
2004 |
2004 |
rs1555686624
|
0.882 |
0.480 |
18 |
51067189 |
splice donor variant |
T/C
|
snv
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555687599
|
1.000 |
0.160 |
18 |
51078393 |
frameshift variant |
-/TA
|
delins
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs281875322
|
0.807 |
0.480 |
18 |
51078306 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767323
|
1.000 |
0.160 |
18 |
51048738 |
stop gained |
G/A
|
snv
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767334
|
0.925 |
0.200 |
18 |
51058143 |
frameshift variant |
-/G
|
delins
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767345
|
1.000 |
0.160 |
18 |
51065522 |
missense variant |
G/A
|
snv
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767349
|
1.000 |
0.160 |
18 |
51065553 |
inframe deletion |
GTT/-
|
delins
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767351
|
1.000 |
0.160 |
18 |
51065566 |
frameshift variant |
TC/-
|
delins
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767355
|
1.000 |
0.160 |
18 |
51067027 |
missense variant |
T/A;C
|
snv
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767360
|
0.882 |
0.240 |
18 |
51076662 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767378
|
1.000 |
0.160 |
18 |
51078400 |
frameshift variant |
G/-
|
delins
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767379
|
1.000 |
0.160 |
18 |
51078404 |
frameshift variant |
CC/T
|
delins
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767380
|
1.000 |
0.160 |
18 |
51078403 |
frameshift variant |
C/-
|
delins
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767382
|
1.000 |
0.160 |
18 |
51078406 |
missense variant |
T/C;G
|
snv
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767383
|
1.000 |
0.160 |
18 |
51078408 |
stop gained |
C/T
|
snv
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767385
|
1.000 |
0.160 |
18 |
51078418 |
frameshift variant |
GAAGTACTTCATAC/-
|
delins
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767387
|
1.000 |
0.160 |
18 |
51076777 |
splice donor variant |
G/A
|
snv
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|