Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs776483190
rs776483190
MTHFR
1.000 1 11802980 missense variant C/G;T snv 4.0E-06; 2.0E-05
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 1.000 7 1995 2015
dbSNP: rs121434296
rs121434296
MTHFR
0.882 0.040 1 11794766 missense variant G/A snv 2.0E-05 3.5E-05
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 1.000 13 1995 2017
dbSNP: rs121434296
rs121434296
MTHFR
0.882 0.040 1 11794766 missense variant G/A snv 2.0E-05 3.5E-05
CUI: C4017062
Disease: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY 		0.700 0
dbSNP: rs769953411
rs769953411
MTHFR
1.000 1 11794732 missense variant C/T snv 2.0E-05
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs144508139
rs144508139
MTHFR
1.000 1 11791244 missense variant G/A snv 1.6E-05
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 1.000 7 1995 2015
dbSNP: rs754015864
rs754015864
MTHFR
1.000 1 11794401 missense variant A/G snv 1.6E-05
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs121434297
rs121434297
MTHFR
0.925 1 11795161 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 1.000 7 1995 2015
dbSNP: rs121434297
rs121434297
MTHFR
0.925 1 11795161 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C4017062
Disease: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY 		0.700 0
dbSNP: rs377443637
rs377443637
MTHFR
1.000 1 11794823 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 1.000 1 1998 1998
dbSNP: rs147257424
rs147257424
MTHFR
0.925 0.080 1 11801299 missense variant C/A;G;T snv 1.2E-05; 1.2E-05
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 0
dbSNP: rs200137991
rs200137991
MTHFR
1.000 1 11794443 missense variant C/A;G snv 1.2E-05; 4.0E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 0
dbSNP: rs750323424
rs750323424
MTHFR
1.000 1 11794765 missense variant C/T snv 1.2E-05 3.5E-05
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs777661576
rs777661576
MTHFR
1.000 1 11790916 intron variant C/T snv 4.0E-06; 8.0E-06 1.4E-05
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs780014899
rs780014899
MTHFR
1.000 1 11794540 splice acceptor variant T/- del 8.0E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs983672500
rs983672500
MTHFR
1.000 1 11790895 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs779993607
rs779993607
MTHFR
1.000 1 11794826 missense variant G/A snv 8.0E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs373398993
rs373398993
MTHFR
1.000 1 11796219 missense variant A/T snv 8.0E-06 1.4E-05
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 1.000 7 1995 2015
dbSNP: rs786204023
rs786204023
MTHFR
1.000 1 11794807 missense variant C/T snv 8.0E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 1.000 7 1995 2015
dbSNP: rs748571395
rs748571395
MTHFR
1.000 1 11796306 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs1430872491
rs1430872491
MTHFR
1.000 1 11794735 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 1.000 7 1995 2015
dbSNP: rs746353274
rs746353274
MTHFR
1.000 1 11796341 inframe deletion TTC/- delins 8.0E-06 7.0E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs786204027
rs786204027
MTHFR
1.000 1 11793905 splice donor variant A/C;G snv 4.1E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs368321176
rs368321176
MTHFR
1.000 1 11795116 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 1.000 7 1995 2015
dbSNP: rs768434408
rs768434408
MTHFR ; C1orf167
1.000 1 11790682 stop lost A/G snv 4.0E-06 7.0E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs786204022
rs786204022
MTHFR
1.000 1 11794835 missense variant G/A snv 4.0E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 1.000 7 1995 2015