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: rs1034528
rs1034528
MTOR ; ANGPTL7
5 0.882 0.120 1 11189075 intron variant G/C snv 0.30 0.010 1.000 1 2013 2013
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 2019 2019
dbSNP: rs1052576
rs1052576
CASP9
9 0.807 0.200 1 15506048 missense variant T/A;C snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
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: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs11122573
rs11122573 		3 1.000 0.080 1 230701434 upstream gene variant C/T snv 8.0E-02 0.700 1.000 1 2020 2020
dbSNP: rs112193369
rs112193369
CAMTA1
1 1.000 0.080 1 7498191 intron variant -/AGTGTG;AGTGTGTG;AGTGTTGGTG;AGTGTTGGTGTG;AGTGTTGGTGTGTG;GGTG delins 0.700 1.000 1 2020 2020
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: 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: rs1775148
rs1775148
SLC41A1
1 1.000 0.080 1 205788696 downstream gene variant C/A;T snv 0.700 1.000 1 2014 2014
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: rs186507655
rs186507655 		17 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 0.700 1.000 1 2016 2016
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