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: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2014 2019
dbSNP: rs121434295
rs121434295
MTHFR
2 0.925 1 11801166 missense variant C/T snv 3.6E-05 2.1E-05 0.700 1.000 7 1995 2015
dbSNP: rs121434297
rs121434297
MTHFR
2 0.925 1 11795161 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 7 1995 2015
dbSNP: rs1430872491
rs1430872491
MTHFR
1 1.000 1 11794735 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 7 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: rs368321176
rs368321176
MTHFR
1 1.000 1 11795116 missense variant A/G snv 4.0E-06 1.4E-05 0.700 1.000 7 1995 2015
dbSNP: rs371085894
rs371085894
MTHFR
1 1.000 1 11795156 missense variant G/A snv 2.4E-05 1.4E-05 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: rs765586205
rs765586205
MTHFR
1 1.000 1 11793907 splice region variant C/T snv 4.9E-05 7.0E-06 0.700 1.000 5 2013 2016
dbSNP: rs1057519359
rs1057519359
MTHFR
1 1.000 1 11802880 splice donor variant C/T snv 0.700 1.000 2 2016 2016
dbSNP: rs1057519360
rs1057519360
MTHFR
1 1.000 1 11801220 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 2 2004 2016
dbSNP: rs1057519361
rs1057519361
MTHFR
1 1.000 1 11796382 missense variant G/T snv 0.700 1.000 2 2011 2016
dbSNP: rs1057519362
rs1057519362
MTHFR
1 1.000 1 11796324 frameshift variant C/- delins 0.700 1.000 2 2016 2016
dbSNP: rs1057519363
rs1057519363
MTHFR
1 1.000 1 11792317 frameshift variant C/- del 0.700 1.000 2 2011 2016
dbSNP: rs377443637
rs377443637
MTHFR
1 1.000 1 11794823 stop gained G/A snv 1.2E-05 7.0E-06 0.700 1.000 1 1998 1998
dbSNP: rs749765738
rs749765738
MTHFR
1 1.000 1 11792276 splice donor variant A/C;G snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs759031330
rs759031330
MTHFR
1 1.000 1 11794862 missense variant G/A snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1182635980
rs1182635980
MTHFR
1 1.000 1 11800275 missense variant C/T snv 0.700 0
dbSNP: rs138189536
rs138189536
MTHFR
1 1.000 1 11802981 missense variant G/A snv 2.0E-04 7.7E-05 0.700 0
dbSNP: rs1553187509
rs1553187509
MTHFR
1 1.000 1 11801399 missense variant C/A snv 0.700 0