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: rs10853104
rs10853104
IGF2BP1
1 1.000 0.120 17 49014714 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11099592
rs11099592
HPSE
5 0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80 0.010 1.000 1 2007 2007
dbSNP: rs111033563
rs111033563
HFE ; LOC108783645
8 0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs111978267
rs111978267
KCNQ1
3 0.882 0.120 11 2751648 intron variant C/G;T snv 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 < 0.001 1 2016 2016
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1169704167
rs1169704167
ATM
3 0.882 0.120 11 108284370 frameshift variant -/T delins 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1194008138
rs1194008138
NR3C1
3 0.882 0.120 5 143400121 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1206846668
rs1206846668
FOLH1
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913448
rs121913448
ABL1
5 0.827 0.120 9 130862976 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121913451
rs121913451
ABL1
4 0.851 0.160 9 130872903 missense variant C/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs12402181
rs12402181
SGIP1 ; MIR3117
3 0.882 0.120 1 66628488 mature miRNA variant G/A snv 0.17 0.24 0.010 1.000 1 2018 2018
dbSNP: rs12434881
rs12434881
CEBPE
3 0.882 0.120 14 23119433 5 prime UTR variant G/A snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs1275561861
rs1275561861
HLA-A
23 0.672 0.360 6 29944350 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs12803915
rs12803915
NEAT1 ; MIR612
3 0.882 0.120 11 65444508 non coding transcript exon variant G/A snv 0.16 0.17 0.010 1.000 1 2014 2014
dbSNP: rs1296957097
rs1296957097
CHEK2
3 0.882 0.120 22 28719401 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1310678797
rs1310678797
VDR
3 0.882 0.120 12 47857143 missense variant C/T snv 7.0E-06 0.010 1.000 1 2008 2008
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 2008 2008
dbSNP: rs1339159756
rs1339159756
JAK2 ; INSL6
2 0.925 0.120 9 5078395 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1361742125
rs1361742125
NR3C1
3 0.882 0.120 5 143399842 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs138047632
rs138047632
SLC19A1 ; LOC107987304
3 0.882 0.120 21 45525860 missense variant A/G snv 2.4E-03 2.2E-03 0.010 1.000 1 2008 2008