rs121913052
|
1.000 |
0.160 |
1 |
196715679 |
missense variant |
T/C
|
snv
|
|
|
Complement Factor H Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs121913053
|
1.000 |
0.160 |
1 |
196740712 |
missense variant |
G/A
|
snv
|
|
|
Complement Factor H Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs121913054
|
1.000 |
0.160 |
1 |
196677613 |
stop gained |
G/A;T
|
snv
|
2.0E-05
|
|
Complement Factor H Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs121913056
|
1.000 |
0.160 |
1 |
196690194 |
missense variant |
T/A;G
|
snv
|
4.0E-06;
4.0E-06
|
|
Complement Factor H Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs121913058
|
0.925 |
0.200 |
1 |
196676018 |
missense variant |
G/A;C;T
|
snv
|
8.0E-06
|
|
Complement Factor H Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs121913059
|
0.716 |
0.280 |
1 |
196747245 |
missense variant |
C/T
|
snv
|
1.4E-04
|
1.9E-04
|
Complement Factor H Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
0.800 |
|
0 |
|
|
rs796052138
|
1.000 |
0.160 |
1 |
196679671 |
inframe deletion |
AGA/-
|
delins
|
|
|
Complement Factor H Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs575109631
|
0.925 |
0.200 |
1 |
196745862 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Complement Factor H Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
0.700 |
1.000 |
8 |
1997 |
2006 |
rs62625015
|
1.000 |
0.160 |
1 |
196743544 |
missense variant |
C/G
|
snv
|
3.9E-04
|
2.4E-04
|
Complement Factor H Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
0.700 |
1.000 |
8 |
1997 |
2006 |