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: rs10920531
rs10920531 		2 0.925 0.080 1 202939708 downstream gene variant A/C snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs11102001
rs11102001
GSTM5 ; EPS8L3
4 0.925 0.080 1 109757069 missense variant G/A snv 9.4E-02 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1131450
rs1131450
MTR
2 0.925 0.080 1 236898549 3 prime UTR variant G/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs11577139
rs11577139 		1 1.000 0.080 1 98200569 intergenic variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs12144215
rs12144215
MAGI3
2 0.925 0.120 1 113644533 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1218582
rs1218582
KCNN3
2 0.925 0.080 1 154861707 intron variant G/A snv 0.46 0.700 1.000 1 2013 2013
dbSNP: rs12723593
rs12723593 		2 0.925 0.080 1 182569447 downstream gene variant C/G snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs1350533716
rs1350533716
PRDM2
2 0.925 0.080 1 13780080 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1360698171
rs1360698171
RNASEL
4 0.851 0.080 1 182584103 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1380576
rs1380576
MDM4
10 0.763 0.240 1 204519150 intron variant G/C snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs143544690
rs143544690
RNASEL
2 0.925 0.080 1 182585927 missense variant T/C snv 3.5E-04 1.4E-03 0.010 1.000 1 2008 2008
dbSNP: rs145889899
rs145889899
LDLRAD1
3 0.882 0.120 1 54010411 splice acceptor variant C/T snv 6.2E-04 2.4E-03 0.010 1.000 1 2013 2013
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 < 0.001 1 2011 2011
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 2011 2011
dbSNP: rs1800890
rs1800890
IL19
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.010 1.000 1 2009 2009
dbSNP: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.010 < 0.001 1 2014 2014
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 2010 2010
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2010 2010
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: rs2232853
rs2232853
CYB5R1
2 0.925 0.080 1 202962830 non coding transcript exon variant G/A snv 0.22 0.010 1.000 1 2016 2016
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 2006 2006
dbSNP: rs2297480
rs2297480
FDPS
4 0.851 0.280 1 155309691 non coding transcript exon variant T/G snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs2536
rs2536
MTOR
11 0.776 0.240 1 11106656 3 prime UTR variant T/C snv 5.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs25655
rs25655
CAPN2
2 0.925 0.080 1 223712706 missense variant C/G snv 1.00 0.99 0.010 1.000 1 2019 2019
dbSNP: rs28372871
rs28372871
MTR
2 0.925 0.080 1 236795232 upstream gene variant G/A;T snv 0.010 1.000 1 2016 2016