rs754980119
|
0.925 |
0.280 |
1 |
11802962 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
5.6E-05
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.810 |
1.000 |
8 |
1995 |
2015 |
rs121434296
|
0.882 |
0.040 |
1 |
11794766 |
missense variant |
G/A
|
snv
|
2.0E-05
|
3.5E-05
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
13 |
1995 |
2017 |
rs373398993
|
1.000 |
|
1 |
11796219 |
missense variant |
A/T
|
snv
|
8.0E-06
|
1.4E-05
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs574132670
|
1.000 |
|
1 |
11800250 |
missense variant |
C/T
|
snv
|
6.0E-05
|
1.4E-05
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs763539350
|
1.000 |
|
1 |
11802915 |
stop gained |
G/A;C
|
snv
|
8.0E-06;
4.0E-05
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs769381688
|
1.000 |
|
1 |
11801257 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs776483190
|
1.000 |
|
1 |
11802980 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
2.0E-05
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204007
|
1.000 |
|
1 |
11802941 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204009
|
1.000 |
|
1 |
11801392 |
missense variant |
G/A
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204012
|
1.000 |
|
1 |
11801248 |
missense variant |
A/G
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204013
|
1.000 |
|
1 |
11801196 |
missense variant |
T/G
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204014
|
1.000 |
|
1 |
11796399 |
missense variant |
C/T
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204017
|
1.000 |
|
1 |
11796226 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204018
|
1.000 |
|
1 |
11796222 |
missense variant |
C/A
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204019
|
1.000 |
|
1 |
11796217 |
missense variant |
A/C
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204021
|
1.000 |
|
1 |
11794853 |
missense variant |
G/A
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204022
|
1.000 |
|
1 |
11794835 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204023
|
1.000 |
|
1 |
11794807 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204024
|
1.000 |
|
1 |
11794781 |
missense variant |
T/C
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204026
|
1.000 |
|
1 |
11793921 |
missense variant |
A/C
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204028
|
1.000 |
|
1 |
11792304 |
missense variant |
C/A;T
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204031
|
1.000 |
|
1 |
11791235 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204034
|
1.000 |
|
1 |
11790858 |
missense variant |
A/G
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs786204037
|
1.000 |
|
1 |
11790768 |
missense variant |
A/G;T
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
1.000 |
7 |
1995 |
2015 |
rs1801133
|
0.472 |
0.880 |
1 |
11796321 |
missense variant |
G/A
|
snv
|
0.31
|
0.27
|
Homocysteine measurement
|
|
0.800 |
1.000 |
4 |
2009 |
2018 |