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 1.000 11 2005 2014
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.060 0.500 6 2010 2015
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.050 0.600 5 2013 2015
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 0.667 3 2013 2016
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 0.500 2 2015 2016
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2015 2016
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.020 1.000 2 2012 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2013 2013
dbSNP: rs6682925
rs6682925
IL23R ; C1orf141
11 0.776 0.160 1 67165579 intron variant C/T snv 0.47 0.020 1.000 2 2012 2019
dbSNP: rs11548103
rs11548103
S100A14
4 0.882 0.080 1 153615864 splice region variant C/T snv 0.40 0.39 0.010 1.000 1 2017 2017
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1801173
rs1801173
TP73
5 0.851 0.120 1 3682346 5 prime UTR variant C/T snv 0.20 0.18 0.010 1.000 1 2014 2014
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 2005 2005
dbSNP: rs2273953
rs2273953
TP73
5 0.851 0.120 1 3682336 5 prime UTR variant G/A;T snv 0.20; 3.3E-04 0.010 1.000 1 2011 2011
dbSNP: rs2378002
rs2378002 		1 1 218749016 intergenic variant G/T snv 5.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs2803270
rs2803270
AGBL4
1 1 48565566 intron variant C/T snv 0.61 0.700 1.000 1 2012 2012
dbSNP: rs4072037
rs4072037
MUC1
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.700 1.000 1 2010 2010
dbSNP: rs4908343
rs4908343
AHDC1
1 1 27605187 upstream gene variant G/A snv 0.61 0.700 1.000 1 2010 2010
dbSNP: rs4970821
rs4970821
SLC25A24P1
1 1 108316692 intron variant T/C snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs10931936
rs10931936
CASP8
6 0.827 0.120 2 201279205 intron variant T/C snv 0.72 0.710 1.000 2 2012 2017
dbSNP: rs13016963
rs13016963
FLACC1
5 0.851 0.080 2 201298088 intron variant A/G snv 0.59 0.710 1.000 2 2012 2017
dbSNP: rs10186527
rs10186527
FLACC1
1 2 201335852 intron variant C/T snv 0.54 0.700 1.000 1 2012 2012
dbSNP: rs10191793
rs10191793
ST6GAL2
1 2 106809420 intron variant A/G snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs10197246
rs10197246
FLACC1
1 2 201340018 intron variant T/C snv 0.72 0.700 1.000 1 2012 2012
dbSNP: rs10201587
rs10201587
FLACC1
1 2 201338068 intron variant A/G snv 0.47 0.700 1.000 1 2012 2012