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: rs118049207
rs118049207
SND1
2 0.925 0.080 7 127890817 intron variant A/G snv 1.7E-03 0.010 1.000 1 2020 2020
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs2070804
rs2070804
HSPB1
3 0.925 0.080 7 76304395 downstream gene variant T/G snv 0.13 0.010 1.000 1 2020 2020
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2020 2020
dbSNP: rs2470151
rs2470151
CYP19A1 ; MIR7973-2
4 0.925 0.080 15 51314872 intron variant C/T snv 0.29 0.010 1.000 1 2020 2020
dbSNP: rs2555639
rs2555639 		7 0.851 0.080 4 174540379 non coding transcript exon variant T/C snv 0.38 0.010 1.000 1 2020 2020
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2020 2020
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.020 1.000 2 2019 2019
dbSNP: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.020 1.000 2 2019 2019
dbSNP: rs1057519860
rs1057519860
EGFR
5 0.851 0.080 7 55160316 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1063169
rs1063169
FOS
2 0.925 0.080 14 75280415 5 prime UTR variant G/T snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1064795841
rs1064795841
TP53
4 0.882 0.080 17 7674971 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1282801317
rs1282801317
EGFR
2 0.925 0.080 7 55143316 missense variant G/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs13072632
rs13072632
CTNNB1
2 0.925 0.080 3 41220953 5 prime UTR variant T/C snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs1428
rs1428
MIR17HG
3 0.882 0.200 13 91354516 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1456315
rs1456315
PCAT1 ; PRNCR1 ; CASC19
9 0.790 0.200 8 127091692 non coding transcript exon variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs146639652
rs146639652
POLE
5 0.827 0.080 12 132675752 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs1590
rs1590
TGFBR1
5 0.882 0.120 9 99153883 3 prime UTR variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs16917496
rs16917496
KMT5A
21 0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs17026425
rs17026425
IQCM
4 0.882 0.080 4 149751362 intron variant G/A snv 4.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1725459
rs1725459
SIPA1L3
2 0.925 0.080 19 38049092 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs17735387
rs17735387
MIR17HG
2 0.925 0.080 13 91353800 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2075241
rs2075241
LRP6 ; BCL2L14
4 0.882 0.200 12 12138545 intron variant G/A;C snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs2281611
rs2281611
MEG8 ; MIR495
2 0.925 0.080 14 101033612 intron variant G/A;T snv 0.010 1.000 1 2019 2019