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: rs17401966
rs17401966
KIF1B
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.900 0.833 12 2010 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.900 10 2004 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.060 1.000 6 2007 2015
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.040 0.500 4 2018 2019
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.030 1.000 3 1996 2014
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.030 1.000 3 2018 2019
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.030 1.000 3 2013 2015
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.030 0.667 3 2011 2018
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.030 0.667 3 2011 2018
dbSNP: rs7536540
rs7536540
JAK1 ; MIR101-1 ; MIR3671
3 0.882 0.160 1 65058899 intron variant C/G;T snv 0.65 0.030 1.000 3 2012 2017
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 0.020 1.000 2 2017 2018
dbSNP: rs2070150
rs2070150
ATF6
6 0.827 0.280 1 161791486 missense variant G/C snv 0.14 9.2E-02 0.020 1.000 2 2014 2016
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.020 1.000 2 2013 2014
dbSNP: rs2640908
rs2640908
PER3
1 1.000 0.080 1 7829881 synonymous variant C/T snv 0.22 0.22 0.020 1.000 2 2012 2014
dbSNP: rs2794521
rs2794521
CRP
15 0.742 0.480 1 159715306 upstream gene variant C/T snv 0.78 0.020 < 0.001 2 2014 2015
dbSNP: rs3093059
rs3093059
CRP
11 0.752 0.520 1 159715346 upstream gene variant A/G snv 0.13 0.020 1.000 2 2014 2015
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.020 1.000 2 2011 2018
dbSNP: rs1014509103
rs1014509103
ADAMTS4
2 1.000 0.080 1 161194005 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2019 2019
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: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2005 2005
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs112395617
rs112395617
JAK1 ; RAVER2
1 1.000 0.080 1 64833868 3 prime UTR variant -/TTAA;TTAATTAA delins 0.010 1.000 1 2018 2018
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2012 2012
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2012 2012
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016