rs121909283
|
0.882 |
0.120 |
10 |
70435399 |
stop gained |
C/A;T
|
snv
|
3.1E-04
|
|
Heterotaxy, Visceral, 5, Autosomal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
2 |
1997 |
2009 |
rs104894169
|
1.000 |
0.120 |
10 |
70435629 |
missense variant |
C/T
|
snv
|
8.8E-05
|
2.2E-04
|
Heterotaxy, Visceral, 5, Autosomal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
1997 |
2009 |
rs781366461
|
1.000 |
0.120 |
10 |
70435354 |
missense variant |
G/A
|
snv
|
5.2E-05
|
|
Heterotaxy, Visceral, 5, Autosomal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
1997 |
2009 |
rs10999334
|
1.000 |
0.120 |
10 |
70435570 |
missense variant |
C/T
|
snv
|
4.3E-04
|
1.6E-04
|
Heterotaxy, Visceral, 5, Autosomal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1310479365
|
1.000 |
0.120 |
10 |
70435327 |
missense variant |
C/A
|
snv
|
|
7.0E-06
|
Heterotaxy, Visceral, 5, Autosomal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1564667180
|
1.000 |
0.120 |
10 |
70435470 |
frameshift variant |
GGTGCCTC/-
|
delins
|
|
|
Heterotaxy, Visceral, 5, Autosomal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1564667617
|
1.000 |
0.120 |
10 |
70435984 |
splice acceptor variant |
C/A
|
snv
|
|
|
Heterotaxy, Visceral, 5, Autosomal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs878855044
|
1.000 |
0.120 |
10 |
70435285 |
splice donor variant |
C/T
|
snv
|
|
7.0E-06
|
Heterotaxy, Visceral, 5, Autosomal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|