Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs754980119
rs754980119
MTHFR
2 0.925 0.280 1 11802962 missense variant C/G;T snv 4.0E-06; 5.6E-05 0.810 1.000 8 1995 2015
dbSNP: rs144508139
rs144508139
MTHFR
1 1.000 1 11791244 missense variant G/A snv 1.6E-05 0.700 1.000 7 1995 2015
dbSNP: rs201618781
rs201618781
MTHFR
1 1.000 1 11802965 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 3.2E-05 0.700 1.000 7 1995 2015
dbSNP: rs267606886
rs267606886
MTHFR
2 0.925 1 11795114 missense variant A/C snv 0.700 1.000 7 1995 2015
dbSNP: rs267606887
rs267606887
MTHFR
2 0.925 1 11795158 missense variant T/C snv 0.700 1.000 7 1995 2015
dbSNP: rs543016186
rs543016186
MTHFR
1 1.000 1 11795125 missense variant C/G;T snv 4.0E-06; 4.8E-05 0.700 1.000 7 1995 2015
dbSNP: rs763539350
rs763539350
MTHFR
1 1.000 1 11802915 stop gained G/A;C snv 8.0E-06; 4.0E-05 0.800 1.000 7 1995 2015
dbSNP: rs769381688
rs769381688
MTHFR
1 1.000 1 11801257 missense variant G/A snv 4.0E-06 0.800 1.000 7 1995 2015
dbSNP: rs776483190
rs776483190
MTHFR
1 1.000 1 11802980 missense variant C/G;T snv 4.0E-06; 2.0E-05 0.800 1.000 7 1995 2015
dbSNP: rs786204007
rs786204007
MTHFR
1 1.000 1 11802941 stop gained C/G;T snv 4.0E-06 0.800 1.000 7 1995 2015
dbSNP: rs786204009
rs786204009
MTHFR
1 1.000 1 11801392 missense variant G/A snv 0.800 1.000 7 1995 2015
dbSNP: rs786204012
rs786204012
MTHFR
1 1.000 1 11801248 missense variant A/G snv 0.800 1.000 7 1995 2015
dbSNP: rs786204013
rs786204013
MTHFR
1 1.000 1 11801196 missense variant T/G snv 0.800 1.000 7 1995 2015
dbSNP: rs786204014
rs786204014
MTHFR
1 1.000 1 11796399 missense variant C/T snv 0.800 1.000 7 1995 2015
dbSNP: rs786204017
rs786204017
MTHFR
1 1.000 1 11796226 missense variant G/A;C snv 4.0E-06 0.800 1.000 7 1995 2015
dbSNP: rs786204018
rs786204018
MTHFR
1 1.000 1 11796222 missense variant C/A snv 0.800 1.000 7 1995 2015
dbSNP: rs786204019
rs786204019
MTHFR
1 1.000 1 11796217 missense variant A/C snv 0.800 1.000 7 1995 2015
dbSNP: rs786204021
rs786204021
MTHFR
1 1.000 1 11794853 missense variant G/A snv 0.800 1.000 7 1995 2015
dbSNP: rs786204022
rs786204022
MTHFR
1 1.000 1 11794835 missense variant G/A snv 4.0E-06 0.800 1.000 7 1995 2015
dbSNP: rs786204023
rs786204023
MTHFR
1 1.000 1 11794807 missense variant C/T snv 8.0E-06 0.800 1.000 7 1995 2015
dbSNP: rs786204024
rs786204024
MTHFR
1 1.000 1 11794781 missense variant T/C snv 0.800 1.000 7 1995 2015
dbSNP: rs786204026
rs786204026
MTHFR
1 1.000 1 11793921 missense variant A/C snv 0.800 1.000 7 1995 2015
dbSNP: rs786204028
rs786204028
MTHFR
1 1.000 1 11792304 missense variant C/A;T snv 0.800 1.000 7 1995 2015
dbSNP: rs786204031
rs786204031
MTHFR
1 1.000 1 11791235 missense variant A/C;G snv 4.0E-06 0.800 1.000 7 1995 2015
dbSNP: rs786204034
rs786204034
MTHFR
1 1.000 1 11790858 missense variant A/G snv 0.800 1.000 7 1995 2015