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: rs1557761665
rs1557761665
MTHFR
1.000 1 11794437 frameshift variant -/C delins
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: rs576853093
rs576853093
MTHFR
1 11790946 intron variant -/C;CACACACACACAC ins 6.2E-03
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs786204010
rs786204010
MTHFR
1.000 1 11801333 inframe insertion -/TCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGGGGG delins
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: rs267606886
rs267606886
MTHFR
0.925 1 11795114 missense variant A/C snv
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: rs786204019
rs786204019
MTHFR
1.000 1 11796217 missense variant A/C snv
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: rs786204026
rs786204026
MTHFR
1.000 1 11793921 missense variant A/C snv
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: rs267606886
rs267606886
MTHFR
0.925 1 11795114 missense variant A/C snv
CUI: C4017062
Disease: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY 		0.700 0
dbSNP: rs786204031
rs786204031
MTHFR
1.000 1 11791235 missense variant A/C;G 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
dbSNP: rs749765738
rs749765738
MTHFR
1.000 1 11792276 splice donor variant A/C;G 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 		0.700 1.000 1 2015 2015
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: 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: 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: rs786204012
rs786204012
MTHFR
1.000 1 11801248 missense variant A/G snv
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: rs786204034
rs786204034
MTHFR
1.000 1 11790858 missense variant A/G snv
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: rs17367504
rs17367504
MTHFR
1.000 0.040 1 11802721 intron variant A/G snv 0.14
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 5 2009 2018
dbSNP: rs17367504
rs17367504
MTHFR
1.000 0.040 1 11802721 intron variant A/G snv 0.14
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 4 2017 2018
dbSNP: rs17367504
rs17367504
MTHFR
1.000 0.040 1 11802721 intron variant A/G snv 0.14
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 2 2011 2011
dbSNP: rs17367504
rs17367504
MTHFR
1.000 0.040 1 11802721 intron variant A/G snv 0.14
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 2 2011 2016
dbSNP: rs17367504
rs17367504
MTHFR
1.000 0.040 1 11802721 intron variant A/G snv 0.14
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.700 1.000 2 2009 2011
dbSNP: rs13306561
rs13306561
CLCN6 ; MTHFR
1 11805747 5 prime UTR variant A/G snv 0.18
CUI: C0427418
Disease: Folic acid measurement, RBC
Folic acid measurement, RBC 		0.700 1.000 1 2018 2018
dbSNP: rs13306561
rs13306561
CLCN6 ; MTHFR
1 11805747 5 prime UTR variant A/G snv 0.18
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.700 1.000 1 2018 2018
dbSNP: rs17037388
rs17037388
MTHFR
1 11797979 intron variant A/G snv 0.17
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs17367504
rs17367504
MTHFR
1.000 0.040 1 11802721 intron variant A/G snv 0.14
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.700 1.000 1 2019 2019
dbSNP: rs17367504
rs17367504
MTHFR
1.000 0.040 1 11802721 intron variant A/G snv 0.14
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.700 1.000 1 2011 2011
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