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: rs748289202
rs748289202
MTHFR
1 1.000 1 11795126 missense variant G/A snv 7.2E-05 9.8E-05 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: rs367585605
rs367585605
MTHFR
1 1.000 1 11794385 synonymous variant C/T snv 2.4E-05; 4.0E-06 3.5E-05 0.700 0
dbSNP: rs121434296
rs121434296
MTHFR
3 0.882 0.040 1 11794766 missense variant G/A snv 2.0E-05 3.5E-05 0.800 1.000 13 1995 2017
dbSNP: rs750323424
rs750323424
MTHFR
1 1.000 1 11794765 missense variant C/T snv 1.2E-05 3.5E-05 0.700 0
dbSNP: rs45590836
rs45590836
MTHFR
1 1.000 1 11791216 missense variant C/T snv 3.2E-05 2.8E-05 0.700 0
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: rs983672500
rs983672500
MTHFR
1 1.000 1 11790895 missense variant C/T snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs373398993
rs373398993
MTHFR
1 1.000 1 11796219 missense variant A/T snv 8.0E-06 1.4E-05 0.800 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: rs777661576
rs777661576
MTHFR
1 1.000 1 11790916 intron variant C/T snv 4.0E-06; 8.0E-06 1.4E-05 0.700 0
dbSNP: rs574132670
rs574132670
MTHFR
1 1.000 1 11800250 missense variant C/T snv 6.0E-05 1.4E-05 0.800 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: rs759031330
rs759031330
MTHFR
1 1.000 1 11794862 missense variant G/A snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs768434408
rs768434408
MTHFR ; C1orf167
1 1.000 1 11790682 stop lost A/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs748571395
rs748571395
MTHFR
1 1.000 1 11796306 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
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: 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: 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: rs746353274
rs746353274
MTHFR
1 1.000 1 11796341 inframe deletion TTC/- delins 8.0E-06 7.0E-06 0.700 0
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: 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: 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: 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