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: rs1565499148
rs1565499148
ATM ; C11orf65
1 1.000 0.120 11 108315904 frameshift variant -/T delins 0.700 0
dbSNP: rs587781894
rs587781894
ATM ; C11orf65
4 0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs638820
rs638820
GSTM2 ; GSTM4
5 0.827 0.160 1 109667284 intron variant G/A snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs186724
rs186724
AHCYL1
3 0.882 0.120 1 110018293 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2165109
rs2165109
ACOXL ; MIR4435-2HG
2 0.925 0.120 2 111061081 intron variant A/C snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs11954856
rs11954856
APC
12 0.732 0.200 5 112751630 intron variant T/G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2014 2014
dbSNP: rs351771
rs351771
APC
3 0.882 0.120 5 112828864 synonymous variant G/A snv 0.65 0.59 0.010 1.000 1 2014 2014
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 1997 1998
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.020 1.000 2 1997 1998
dbSNP: rs459552
rs459552
APC
14 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs10260419
rs10260419
THSD7A
3 0.882 0.120 7 11524758 intron variant C/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs6134303
rs6134303 		1 1.000 0.120 20 11586401 intergenic variant T/G snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs1791890
rs1791890
LOC107984393
1 1.000 0.120 11 116120763 intergenic variant A/G snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 0.250 4 2010 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.070 0.857 7 2010 2014
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 2012 2014
dbSNP: rs145022376
rs145022376
ADARB2 ; LINC00200
1 1.000 0.120 10 1186289 intron variant C/- delins 9.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs12031579
rs12031579 		1 1.000 0.120 1 119307920 intron variant G/A snv 6.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs66696671
rs66696671 		1 1.000 0.120 10 119607441 intergenic variant G/T snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs7953249
rs7953249
HNF1A-AS1
4 0.882 0.160 12 120965921 splice region variant G/A snv 0.59 0.700 1.000 1 2017 2017
dbSNP: rs11200014
rs11200014
FGFR2
19 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2012 2012