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 |
|
|
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 |
|
|
rs1182635980
|
1.000 |
|
1 |
11800275 |
missense variant |
C/T
|
snv
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
rs45590836
|
1.000 |
|
1 |
11791216 |
missense variant |
C/T
|
snv
|
3.2E-05
|
2.8E-05
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs746353274
|
1.000 |
|
1 |
11796341 |
inframe deletion |
TTC/-
|
delins
|
8.0E-06
|
7.0E-06
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs747846362
|
1.000 |
|
1 |
11791206 |
splice donor variant |
C/A
|
snv
|
4.0E-06
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs748289202
|
1.000 |
|
1 |
11795126 |
missense variant |
G/A
|
snv
|
7.2E-05
|
9.8E-05
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs748571395
|
1.000 |
|
1 |
11796306 |
missense variant |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs750323424
|
1.000 |
|
1 |
11794765 |
missense variant |
C/T
|
snv
|
1.2E-05
|
3.5E-05
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs754015864
|
1.000 |
|
1 |
11794401 |
missense variant |
A/G
|
snv
|
1.6E-05
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs758206023
|
1.000 |
|
1 |
11790843 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
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 |
|
|
rs767890671
|
1.000 |
|
1 |
11801177 |
missense variant |
G/C
|
snv
|
1.1E-04
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs768434408
|
1.000 |
|
1 |
11790682 |
stop lost |
A/G
|
snv
|
4.0E-06
|
7.0E-06
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs769953411
|
1.000 |
|
1 |
11794732 |
missense variant |
C/T
|
snv
|
2.0E-05
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs777661576
|
1.000 |
|
1 |
11790916 |
intron variant |
C/T
|
snv
|
4.0E-06;
8.0E-06
|
1.4E-05
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs779993607
|
1.000 |
|
1 |
11794826 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs780014899
|
1.000 |
|
1 |
11794540 |
splice acceptor variant |
T/-
|
del
|
8.0E-06
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|
rs786204010
|
1.000 |
|
1 |
11801333 |
inframe insertion |
-/TCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGGGGG
|
delins
|
|
|
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
|
0.700 |
|
0 |
|
|