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: rs12427600
rs12427600
SMAD9
9 0.790 0.080 13 36886511 intron variant T/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs12447408
rs12447408 		10 0.776 0.080 16 86218938 downstream gene variant G/A snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1250567
rs1250567
ZMIZ1
10 0.776 0.080 10 79286508 intron variant T/C snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs12514517
rs12514517 		10 0.776 0.080 5 40279974 intergenic variant G/A snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs12548629
rs12548629
BAALC ; BAALC-AS1
10 0.776 0.120 8 103189173 intron variant C/T snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs12594720
rs12594720
SMAD6
10 0.776 0.080 15 66714680 intron variant C/G snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs12601991
rs12601991
HNF1B
17 0.708 0.280 17 37741642 intron variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs12635946
rs12635946 		9 0.790 0.080 3 113198071 intergenic variant C/T snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs12646351
rs12646351
ZNF827
10 0.790 0.080 4 145819473 intron variant G/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs12659017
rs12659017 		9 0.790 0.080 5 126652483 intergenic variant G/A snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs12672022
rs12672022 		10 0.776 0.080 7 45096824 downstream gene variant T/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs12682374
rs12682374
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
9 0.790 0.080 8 127398703 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12708491
rs12708491 		10 0.776 0.080 15 32700635 downstream gene variant G/A snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs12818766
rs12818766
CCND2-AS1
9 0.790 0.080 12 4266925 intron variant G/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs12916300
rs12916300
HERC2
13 0.742 0.080 15 28165345 intron variant C/T snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs12953717
rs12953717
SMAD7
18 0.724 0.240 18 48927559 intron variant C/T snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs12970291
rs12970291 		12 0.763 0.120 18 75305279 intergenic variant G/A snv 2.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs12979278
rs12979278
MAMSTR
9 0.790 0.080 19 48715345 synonymous variant C/T snv 0.46 0.40 0.700 1.000 1 2019 2019
dbSNP: rs13020391
rs13020391
PNKD ; LOC105373881
9 0.790 0.080 2 218319713 intron variant C/T snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs13086367
rs13086367 		10 0.776 0.080 3 113185041 downstream gene variant A/G snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs13129679
rs13129679
RNF4 ; FAM193A
9 0.790 0.080 4 2574375 intron variant G/A snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs13130787
rs13130787 		9 0.790 0.080 4 93965880 intergenic variant T/C snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs13149359
rs13149359 		10 0.776 0.080 4 94017467 intergenic variant C/A snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs13170463
rs13170463 		9 0.790 0.080 5 7983139 downstream gene variant G/A;T snv 3.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs13204733
rs13204733 		10 0.776 0.080 6 55701310 intergenic variant A/G snv 0.10 0.700 1.000 1 2019 2019