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 0.976 41 2002 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 24 2002 2018
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.060 0.833 6 2009 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.060 0.667 6 2008 2018
dbSNP: rs486907
rs486907
RNASEL
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.060 1.000 6 2004 2019
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.050 0.400 5 1996 2014
dbSNP: rs1047840
rs1047840
EXO1
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.040 0.750 4 2012 2016
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.040 0.250 4 2012 2019
dbSNP: rs2295080
rs2295080
MTOR
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.040 1.000 4 2012 2015
dbSNP: rs4245739
rs4245739
MDM4
21 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 0.040 1.000 4 2013 2016
dbSNP: rs763110
rs763110
FASLG
30 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 0.040 0.750 4 2009 2015
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.030 0.667 3 2012 2015
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.030 0.333 3 2013 2015
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.030 0.333 3 2005 2014
dbSNP: rs4072037
rs4072037
MUC1
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.030 1.000 3 2014 2018
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.030 1.000 3 2011 2013
dbSNP: rs6682925
rs6682925
IL23R ; C1orf141
11 0.776 0.160 1 67165579 intron variant C/T snv 0.47 0.030 0.667 3 2013 2015
dbSNP: rs1012477
rs1012477
PER3
8 0.827 0.160 1 7798075 intron variant G/C snv 0.16 0.020 0.500 2 2015 2017
dbSNP: rs1052576
rs1052576
CASP9
9 0.807 0.200 1 15506048 missense variant T/A;C snv 0.53 0.020 1.000 2 2013 2017
dbSNP: rs11249433
rs11249433
EMBP1
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.020 1.000 2 2010 2016
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.020 1.000 2 2012 2020
dbSNP: rs1342387
rs1342387
ADIPOR1
12 0.776 0.120 1 202945228 intron variant T/C snv 0.53 0.020 1.000 2 2014 2015
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.020 0.500 2 2010 2014
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2010 2013
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2002 2006