rs1057519359
|
1.000 |
|
1 |
11802880 |
splice donor variant |
C/T
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
1.000 |
2 |
2016 |
2016 |
rs1057519360
|
1.000 |
|
1 |
11801220 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
1.000 |
2 |
2004 |
2016 |
rs1057519361
|
1.000 |
|
1 |
11796382 |
missense variant |
G/T
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
1.000 |
2 |
2011 |
2016 |
rs1057519362
|
1.000 |
|
1 |
11796324 |
frameshift variant |
C/-
|
delins
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
1.000 |
2 |
2016 |
2016 |
rs1057519363
|
1.000 |
|
1 |
11792317 |
frameshift variant |
C/-
|
del
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
1.000 |
2 |
2011 |
2016 |
rs1182635980
|
1.000 |
|
1 |
11800275 |
missense variant |
C/T
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
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 |
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 |
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 |
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 |
rs138189536
|
1.000 |
|
1 |
11802981 |
missense variant |
G/A
|
snv
|
2.0E-04
|
7.7E-05
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
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 |
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 |
|
|
rs1553187509
|
1.000 |
|
1 |
11801399 |
missense variant |
C/A
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs1553188112
|
1.000 |
|
1 |
11803156 |
5 prime UTR variant |
AG/-
|
del
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs1557761665
|
1.000 |
|
1 |
11794437 |
frameshift variant |
-/C
|
delins
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
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 |
|
|
rs200137991
|
1.000 |
|
1 |
11794443 |
missense variant |
C/A;G
|
snv
|
1.2E-05;
4.0E-06
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.800 |
|
0 |
|
|
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 |
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 |
rs367585605
|
1.000 |
|
1 |
11794385 |
synonymous variant |
C/T
|
snv
|
2.4E-05;
4.0E-06
|
3.5E-05
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
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 |