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: 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: rs12635946
rs12635946 		9 0.790 0.080 3 113198071 intergenic variant C/T snv 0.32 0.700 1.000 1 2019 2019
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: 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: 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: rs13149359
rs13149359 		10 0.776 0.080 4 94017467 intergenic variant C/A snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2019 2019
dbSNP: rs13204733
rs13204733 		10 0.776 0.080 6 55701310 intergenic variant A/G snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs1321310
rs1321310 		9 0.790 0.080 6 36655347 regulatory region variant T/C snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs1323151304
rs1323151304
POLE
2 0.925 0.080 12 132643933 frameshift variant TA/- delins 0.010 1.000 1 2019 2019
dbSNP: rs13281615
rs13281615
POU5F1B ; CASC8 ; PCAT1 ; CASC21
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs1330889
rs1330889
LINC00446 ; OBI1-AS1
9 0.790 0.080 13 78035480 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs13831
rs13831
GNAS
9 0.790 0.080 20 58900136 3 prime UTR variant A/G snv 0.77 0.700 1.000 1 2019 2019
dbSNP: rs1391441
rs1391441
TET2 ; TET2-AS1
11 0.763 0.240 4 105207603 intron variant G/A snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs1412834
rs1412834
CDKN2B-AS1
11 0.790 0.080 9 22110132 intron variant T/C snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs1427760
rs1427760 		10 0.776 0.080 12 114662909 upstream gene variant T/C snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs1445011
rs1445011 		9 0.790 0.080 5 40280100 intergenic variant T/C;G snv 0.700 1.000 1 2019 2019