rs1131690796
|
1.000 |
|
1 |
196728506 |
frameshift variant |
A/-
|
del
|
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs121913051
|
1.000 |
|
1 |
196747260 |
stop gained |
C/G;T
|
snv
|
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.800 |
1.000 |
2 |
2009 |
2010 |
rs121913055
|
1.000 |
|
1 |
196747183 |
missense variant |
T/G
|
snv
|
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.800 |
1.000 |
2 |
2009 |
2010 |
rs121913057
|
1.000 |
|
1 |
196737575 |
stop gained |
T/A;C
|
snv
|
1.6E-05
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs121913059
|
0.716 |
0.280 |
1 |
196747245 |
missense variant |
C/T
|
snv
|
1.4E-04
|
1.9E-04
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs121913060
|
0.925 |
0.120 |
1 |
196747131 |
stop gained |
G/T
|
snv
|
1.2E-05
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs121913063
|
0.925 |
0.120 |
1 |
196747209 |
stop gained |
G/T
|
snv
|
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs1391815797
|
1.000 |
|
1 |
196726614 |
missense variant |
G/A
|
snv
|
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
1.000 |
8 |
1998 |
2010 |
rs145975787
|
1.000 |
|
1 |
196740703 |
missense variant |
C/T
|
snv
|
1.3E-03
|
1.3E-03
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
1.000 |
8 |
1998 |
2010 |
rs148165372
|
1.000 |
|
1 |
196725249 |
missense variant |
G/A
|
snv
|
2.8E-04
|
4.1E-04
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs149474608
|
0.925 |
0.120 |
1 |
196740686 |
missense variant |
G/A;T
|
snv
|
8.0E-06;
3.9E-03
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs1553270437
|
1.000 |
|
1 |
196652175 |
missense variant |
G/A
|
snv
|
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs1553273733
|
1.000 |
|
1 |
196679712 |
frameshift variant |
GT/-
|
delins
|
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs1558162157
|
1.000 |
|
1 |
196690221 |
frameshift variant |
CCCAGATGCA/-
|
del
|
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs201671665
|
1.000 |
|
1 |
196690101 |
missense variant |
C/A
|
snv
|
1.0E-04
|
1.9E-04
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs460184
|
0.925 |
0.120 |
1 |
196747207 |
missense variant |
T/C
|
snv
|
4.0E-06
|
1.4E-05
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
1.000 |
2 |
2009 |
2010 |
rs460897
|
0.925 |
0.120 |
1 |
196747189 |
missense variant |
C/T
|
snv
|
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.800 |
1.000 |
2 |
2009 |
2010 |
rs761877050
|
1.000 |
|
1 |
196747198 |
missense variant |
G/A
|
snv
|
1.2E-05
|
7.0E-06
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
1.000 |
8 |
1998 |
2010 |
rs762443267
|
1.000 |
|
1 |
196736958 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
1.000 |
8 |
1998 |
2010 |
rs777049051
|
1.000 |
|
1 |
196740687 |
missense variant |
T/C
|
snv
|
1.2E-05
|
2.1E-05
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
1.000 |
8 |
1998 |
2010 |
rs796052136
|
1.000 |
|
1 |
196747291 |
stop lost |
CAACTTGTGCAAAAAGATAGAATC/-
|
delins
|
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs796052137
|
1.000 |
|
1 |
196673000 |
frameshift variant |
GAAA/-
|
delins
|
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|
rs886039869
|
1.000 |
|
1 |
196740786 |
missense variant |
T/C;G
|
snv
|
4.0E-06
|
|
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
|
0 |
|
|