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: 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 2007 2012
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2005 2007
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2012
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.020 0.500 2 2015 2016
dbSNP: rs1034220998
rs1034220998
ACOT7
1 1.000 0.040 1 6339497 synonymous variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2003 2003
dbSNP: rs10900598
rs10900598
MDM4
4 0.882 0.120 1 204556440 3 prime UTR variant G/C;T snv 0.38 0.010 1.000 1 2011 2011
dbSNP: rs11801299
rs11801299
LOC105371692
9 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs1380576
rs1380576
MDM4
10 0.763 0.240 1 204519150 intron variant G/C snv 0.57 0.010 1.000 1 2011 2011
dbSNP: rs142648132
rs142648132
MTR
5 0.827 0.160 1 236816521 missense variant G/A;C;T snv 8.4E-04; 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs17568
rs17568
TNFRSF4
12 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2019 2019
dbSNP: rs201765376
rs201765376
MTR
12 0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs2742976
rs2742976
E2F2
3 0.882 0.240 1 23531510 upstream gene variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs3218123
rs3218123
E2F2
2 0.925 0.120 1 23531364 upstream gene variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs3218148
rs3218148
E2F2 ; LOC101928163
1 1.000 0.040 1 23525295 intron variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3218203
rs3218203
E2F2
1 1.000 0.040 1 23511068 intron variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs3218211
rs3218211
E2F2
1 1.000 0.040 1 23509302 3 prime UTR variant A/G snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.010 1.000 1 2011 2011
dbSNP: rs368731455
rs368731455
ACOT7
1 1.000 0.040 1 6281212 missense variant C/T snv 2.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs3862188
rs3862188 		2 1.000 0.040 1 247702471 intron variant T/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs6667575
rs6667575
E2F2
1 1.000 0.040 1 23533029 upstream gene variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs752855469
rs752855469
MTR
1 1.000 0.040 1 236803460 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012