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 0.100 0.875 16 2001 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.800 5 2006 2013
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.020 1.000 2 2015 2015
dbSNP: rs1018379423
rs1018379423
EPHB2
4 1 22907986 missense variant G/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs1047840
rs1047840
EXO1
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.010 1.000 1 2012 2012
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 2011 2011
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2014 2014
dbSNP: rs121913254
rs121913254
NRAS
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1261963959
rs1261963959
KIF1B
1 1 10297069 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs12740674
rs12740674
WLS ; GNG12-AS1
4 0.882 0.080 1 68121775 intron variant C/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs1332018
rs1332018
GSTM3 ; GSTM5
6 0.882 0.200 1 109740350 5 prime UTR variant G/T snv 0.64 0.66 0.010 1.000 1 2013 2013
dbSNP: rs1356083197
rs1356083197
WDR26 ; CNIH3
2 1.000 0.040 1 224434068 missense variant C/T snv 1.5E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs1374712964
rs1374712964
MUTYH
2 1.000 0.080 1 45332028 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs145204276
rs145204276
GAS5 ; ZBTB37 ; SNORD74 ; SNORD75 ; SNORD76 ; SNORD77 ; SNORA103
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2013 2013
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 2011 2011
dbSNP: rs228648
rs228648
UTS2
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.010 1.000 1 2015 2015
dbSNP: rs2566
rs2566
LAMB3
6 0.882 0.080 1 209615169 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2010 2010
dbSNP: rs3091244
rs3091244
CRP
17 0.724 0.280 1 159714875 upstream gene variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs36053993
rs36053993
MUTYH
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2017 2017
dbSNP: rs3850641
rs3850641
TNFSF4
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs486907
rs486907
RNASEL
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.010 1.000 1 2005 2005
dbSNP: rs529365517
rs529365517
FLVCR1 ; FLVCR1-DT
3 0.925 0.080 1 212858540 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2016 2016