rs1217691063
|
0.330 |
0.920 |
1 |
11796309 |
missense variant |
A/G
|
snv
|
4.0E-06
|
7.0E-06
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.040 |
1.000 |
4 |
2014 |
2019 |
rs397507444
|
0.405 |
0.880 |
1 |
11794407 |
missense variant |
T/G
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1801133
|
0.472 |
0.880 |
1 |
11796321 |
missense variant |
G/A
|
snv
|
0.31
|
0.27
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs200100285
|
0.851 |
0.080 |
1 |
11796313 |
missense variant |
T/C;G
|
snv
|
1.9E-04
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
|
0 |
|
|
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 |
rs760161369
|
0.882 |
0.040 |
1 |
11800214 |
missense variant |
G/A;C
|
snv
|
2.8E-05;
4.0E-06
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs786204030
|
0.882 |
0.080 |
1 |
11791276 |
stop gained |
C/T
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
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 |
rs121434295
|
0.925 |
|
1 |
11801166 |
missense variant |
C/T
|
snv
|
3.6E-05
|
2.1E-05
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
1.000 |
7 |
1995 |
2015 |
rs121434297
|
0.925 |
|
1 |
11795161 |
missense variant |
A/G
|
snv
|
1.2E-05
|
7.0E-06
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
1.000 |
7 |
1995 |
2015 |
rs267606886
|
0.925 |
|
1 |
11795114 |
missense variant |
A/C
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
1.000 |
7 |
1995 |
2015 |
rs267606887
|
0.925 |
|
1 |
11795158 |
missense variant |
T/C
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
1.000 |
7 |
1995 |
2015 |
rs147257424
|
0.925 |
0.080 |
1 |
11801299 |
missense variant |
C/A;G;T
|
snv
|
1.2E-05;
1.2E-05
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
|
0 |
|
|
rs1430872491
|
1.000 |
|
1 |
11794735 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
1.000 |
7 |
1995 |
2015 |
rs144508139
|
1.000 |
|
1 |
11791244 |
missense variant |
G/A
|
snv
|
1.6E-05
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
1.000 |
7 |
1995 |
2015 |
rs201618781
|
1.000 |
|
1 |
11802965 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
4.0E-06;
3.2E-05
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
1.000 |
7 |
1995 |
2015 |
rs368321176
|
1.000 |
|
1 |
11795116 |
missense variant |
A/G
|
snv
|
4.0E-06
|
1.4E-05
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
1.000 |
7 |
1995 |
2015 |
rs371085894
|
1.000 |
|
1 |
11795156 |
missense variant |
G/A
|
snv
|
2.4E-05
|
1.4E-05
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
1.000 |
7 |
1995 |
2015 |
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 |
rs543016186
|
1.000 |
|
1 |
11795125 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
4.8E-05
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
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 |