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: rs334348
rs334348
TGFBR1
5 0.851 0.160 9 99150189 3 prime UTR variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4966038
rs4966038
IGF1R
1 1.000 0.040 15 98903403 intron variant G/C snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2010 2010
dbSNP: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs769541124
rs769541124
OGG1
1 1.000 0.040 3 9751142 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2066479
rs2066479
HSD17B3
7 0.790 0.160 9 96235528 missense variant C/A;G;T snv 7.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs71415016
rs71415016 		1 1.000 0.040 14 95977621 intergenic variant T/C snv 6.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs10859871
rs10859871 		2 1.000 0.040 12 95318100 intron variant A/C snv 0.37 0.850 1.000 5 2012 2017
dbSNP: rs4762326
rs4762326
VEZT
1 1.000 0.040 12 95275175 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs10859856
rs10859856
VEZT
1 1.000 0.040 12 95237500 intron variant T/C snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs10777670
rs10777670
FGD6
1 1.000 0.040 12 95181055 intron variant G/A snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs11592737
rs11592737
CYP2C19
2 0.925 0.040 10 94843657 intron variant A/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs811
rs811 		1 1.000 0.040 12 90382160 intergenic variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1410584323
rs1410584323
MUC16
1 1.000 0.040 19 8981098 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1131445
rs1131445
IL16 ; STARD5
16 0.724 0.440 15 81309441 3 prime UTR variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.020 0.500 2 2010 2018
dbSNP: rs4778889
rs4778889
IL16
24 0.683 0.480 15 81296654 intron variant T/C snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs4072111
rs4072111
IL16
16 0.716 0.400 15 81285798 missense variant C/T snv 0.17 0.11 0.020 0.500 2 2016 2018
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2011 2011
dbSNP: rs7356530
rs7356530
DMGDH
1 1.000 0.040 5 79105085 intron variant G/A snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs625879
rs625879
BHMT2 ; DMGDH
2 0.925 0.080 5 79085866 intron variant A/C;T snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs372201428
rs372201428
TP53
3 0.882 0.120 17 7676181 missense variant G/A;C snv 1.2E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.060 0.833 6 2007 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.060 0.833 6 2007 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.060 0.833 6 2007 2016