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 |
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 |
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 |
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 |
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 |
rs17367504
|
|
1.000 |
0.040 |
1 |
11802721 |
intron variant
|
A/G
|
snv
|
|
0.14
|
Systolic Pressure
|
0.700 |
1.000 |
5 |
2009 |
2018 |
rs765586205
|
|
1.000 |
|
1 |
11793907 |
splice region variant
|
C/T
|
snv
|
4.9E-05
|
7.0E-06
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.700 |
1.000 |
5 |
2013 |
2016 |
rs17367504
|
|
1.000 |
0.040 |
1 |
11802721 |
intron variant
|
A/G
|
snv
|
|
0.14
|
Diastolic blood pressure
|
0.700 |
1.000 |
4 |
2017 |
2018 |
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 |
rs17367504
|
|
1.000 |
0.040 |
1 |
11802721 |
intron variant
|
A/G
|
snv
|
|
0.14
|
Blood Pressure
|
0.700 |
1.000 |
2 |
2011 |
2011 |
rs17367504
|
|
1.000 |
0.040 |
1 |
11802721 |
intron variant
|
A/G
|
snv
|
|
0.14
|
Mean blood pressure
|
0.700 |
1.000 |
2 |
2011 |
2016 |
rs17367504
|
|
1.000 |
0.040 |
1 |
11802721 |
intron variant
|
A/G
|
snv
|
|
0.14
|
Systolic blood pressure measurement
|
0.700 |
1.000 |
2 |
2009 |
2011 |
rs1801133
|
|
0.472 |
0.880 |
1 |
11796321 |
missense variant
|
G/A
|
snv
|
0.31
|
0.27
|
Folic acid measurement
|
0.700 |
1.000 |
2 |
2018 |
2018 |
rs13306556
|
|
|
|
1 |
11792053 |
intron variant
|
C/T
|
snv
|
|
0.10
|
Diastolic blood pressure measurement
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs13306556
|
|
|
|
1 |
11792053 |
intron variant
|
C/T
|
snv
|
|
0.10
|
Diastolic blood pressure
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs13306560
|
|
1.000 |
0.040 |
1 |
11806126 |
5 prime UTR variant
|
C/T
|
snv
|
|
3.7E-02
|
Blood Pressure
|
0.700 |
1.000 |
1 |
2010 |
2010 |