Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs754980119
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
dbSNP: rs121434296
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
dbSNP: rs373398993
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
dbSNP: rs574132670
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
dbSNP: rs763539350
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
dbSNP: rs769381688
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
dbSNP: rs776483190
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
dbSNP: rs786204007
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
dbSNP: rs786204009
rs786204009
1.000 1 11801392 missense variant G/A snv
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800 1.000 7 1995 2015
dbSNP: rs786204012
rs786204012
1.000 1 11801248 missense variant A/G snv
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800 1.000 7 1995 2015
dbSNP: rs786204013
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
dbSNP: rs786204014
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
dbSNP: rs786204017
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
dbSNP: rs786204018
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
dbSNP: rs786204019
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
dbSNP: rs786204021
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
dbSNP: rs786204022
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
dbSNP: rs786204023
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
dbSNP: rs786204024
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
dbSNP: rs786204026
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
dbSNP: rs786204028
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
dbSNP: rs786204031
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
dbSNP: rs786204034
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
dbSNP: rs786204037
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
dbSNP: rs147257424
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