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: rs1057519945
rs1057519945
POLE
12 0.776 0.200 12 132673703 missense variant C/A;T snv 0.700 0
dbSNP: rs1555225958
rs1555225958
POLE
2 1.000 12 132661097 stop gained C/A snv 0.700 0
dbSNP: rs761329565
rs761329565
POLE
1 1.000 12 132681201 frameshift variant C/- delins 4.0E-06 0.700 0
dbSNP: rs10049390
rs10049390
SLCO2A1
10 0.776 0.080 3 133982275 intron variant G/A snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs10152518
rs10152518 		9 0.790 0.080 15 67884824 intergenic variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1028166
rs1028166
TENM3 ; TENM3-AS1
9 0.790 0.080 4 181892145 intron variant G/A snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs10457678
rs10457678
ECT2L
10 0.790 0.080 6 138801103 intron variant A/G snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs10506868
rs10506868
VTI1A
16 0.716 0.160 10 112559621 intron variant C/T snv 3.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs10511330
rs10511330
ZBTB20
10 0.776 0.080 3 114402172 intron variant T/C snv 0.22 0.700 1.000 1 2018 2018
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: rs10821907
rs10821907 		12 0.776 0.080 10 50888694 upstream gene variant C/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs10849433
rs10849433
LOC105369624
10 0.776 0.080 12 6297738 regulatory region variant T/C snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs10849438
rs10849438 		9 0.790 0.080 12 6302870 intergenic variant T/G snv 1.0E-01 0.700 1.000 1 2019 2019
dbSNP: rs10904849
rs10904849
CUBN
9 0.790 0.080 10 16955267 intron variant G/A;T snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.700 1.000 1 2010 2010
dbSNP: rs10951878
rs10951878 		9 0.790 0.080 7 46887097 downstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10980628
rs10980628
LPAR1
10 0.776 0.080 9 110909123 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs11064437
rs11064437
SPSB2
9 0.790 0.080 12 6872998 splice acceptor variant C/T snv 9.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs11085466
rs11085466
LOC101929007
10 0.790 0.080 19 21569009 intron variant G/C snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs11087784
rs11087784 		10 0.776 0.080 20 7760329 intergenic variant A/G snv 0.13 0.700 1.000 1 2019 2019
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: rs11150038
rs11150038
CLEC3A
10 0.790 0.080 16 78042662 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs11168936
rs11168936
TUBA1C
17 0.708 0.280 12 49251457 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs11169552
rs11169552
ATF1
10 0.776 0.080 12 50761880 upstream gene variant C/T snv 0.23 0.700 1.000 1 2010 2010