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 |
rs1217691063
|
0.330 |
0.920 |
1 |
11796309 |
missense variant |
A/G
|
snv
|
4.0E-06
|
7.0E-06
|
Congenital defects
|
|
0.050 |
1.000 |
5 |
2004 |
2019 |
rs1217691063
|
0.330 |
0.920 |
1 |
11796309 |
missense variant |
A/G
|
snv
|
4.0E-06
|
7.0E-06
|
Cleft Lip with or without Cleft Palate
|
|
0.050 |
0.800 |
5 |
1998 |
2016 |
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 |
rs1217691063
|
0.330 |
0.920 |
1 |
11796309 |
missense variant |
A/G
|
snv
|
4.0E-06
|
7.0E-06
|
Cleft lip or lips
|
|
0.040 |
0.750 |
4 |
1998 |
2019 |
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 |
rs1217691063
|
0.330 |
0.920 |
1 |
11796309 |
missense variant |
A/G
|
snv
|
4.0E-06
|
7.0E-06
|
early pregnancy
|
|
0.040 |
1.000 |
4 |
1998 |
2018 |
rs17367504
|
1.000 |
0.040 |
1 |
11802721 |
intron variant |
A/G
|
snv
|
|
0.14
|
Diastolic blood pressure
|
|
0.700 |
1.000 |
4 |
2017 |
2018 |
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 |
rs1217691063
|
0.330 |
0.920 |
1 |
11796309 |
missense variant |
A/G
|
snv
|
4.0E-06
|
7.0E-06
|
Nonarteritic anterior ischemic optic neuropathy (NAION)
|
|
0.030 |
1.000 |
3 |
2001 |
2013 |
rs1217691063
|
0.330 |
0.920 |
1 |
11796309 |
missense variant |
A/G
|
snv
|
4.0E-06
|
7.0E-06
|
Atherothrombosis
|
|
0.030 |
0.667 |
3 |
2008 |
2014 |