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 13 2003 2019
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.030 0.667 3 2003 2019
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.030 1.000 3 2006 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 0.500 2 2010 2014
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 2006 2008
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2003 2011
dbSNP: rs621559
rs621559
EBNA1BP2 ; CFAP57 ; LOC105378685
5 0.827 0.080 1 43179740 intron variant G/A snv 0.18 0.020 1.000 2 2013 2014
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 2014 2014
dbSNP: rs11203366
rs11203366
PADI4
2 0.925 0.200 1 17331039 missense variant G/A snv 0.56 0.55 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 2004 2004
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 2017 2017
dbSNP: rs114673809
rs114673809
MTHFR ; C1orf167
3 0.882 0.080 1 11787703 3 prime UTR variant G/A snv 5.0E-03 0.010 1.000 1 2016 2016
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: rs11677
rs11677
PLA2G2A
1 1.000 0.080 1 19975471 3 prime UTR variant G/A snv 9.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs1170595036
rs1170595036
SDHC
1 1.000 0.080 1 161323623 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1200055659
rs1200055659
S100A14 ; S100A16
4 0.851 0.080 1 153614902 missense variant G/A snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2013 2013
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: rs1883965
rs1883965
MTOR
8 0.807 0.160 1 11262099 intron variant A/G snv 0.63 0.010 1.000 1 2013 2013
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2014 2014
dbSNP: rs1886302
rs1886302
PADI4
1 1.000 0.080 1 17308901 intron variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs197412
rs197412
DDX20
2 1.000 0.080 1 111766331 missense variant T/C snv 0.43 0.49 0.010 1.000 1 2018 2018
dbSNP: rs2240337
rs2240337
PADI4
2 0.925 0.200 1 17347727 intron variant C/T snv 9.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs2294750
rs2294750 		1 1.000 0.080 1 10824979 regulatory region variant G/A snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs2477137
rs2477137 		1 1.000 0.080 1 17304110 upstream gene variant G/T snv 0.20 0.010 1.000 1 2017 2017