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: rs1085308054
rs1085308054
PTEN
7 0.827 0.160 10 87952231 frameshift variant AT/- delins 0.700 0
dbSNP: rs7537605
rs7537605
VAV3
3 0.882 0.120 1 107800465 intron variant G/A;T snv 0.710 1.000 1 2015 2015
dbSNP: rs11571297
rs11571297 		3 0.882 0.120 2 203880280 regulatory region variant T/C snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs12507813
rs12507813 		1 1.000 0.040 4 165013422 upstream gene variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12551356
rs12551356 		1 1.000 0.040 9 74698280 intergenic variant G/T snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs13093110
rs13093110
LPP
4 0.882 0.120 3 188407332 intron variant C/T snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs1534422
rs1534422
MIR3681HG
6 0.827 0.160 2 12500615 intron variant G/A snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs2056252
rs2056252
TRIM60
2 1.000 0.040 4 165026338 non coding transcript exon variant G/A snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2270450
rs2270450
SLC25A27 ; LOC101926934
5 0.827 0.200 6 46677138 3 prime UTR variant C/T snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs4409785
rs4409785 		12 0.752 0.240 11 95578258 intron variant T/C snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs57348955
rs57348955 		3 0.882 0.120 16 31174561 upstream gene variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs6972286
rs6972286 		2 1.000 0.040 7 118685680 intergenic variant A/T snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs706779
rs706779
IL2RA
5 0.827 0.160 10 6056861 intron variant T/C snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs7085433
rs7085433
TIMM23
4 1.000 0.040 10 46002468 intron variant C/T snv 9.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs72928038
rs72928038
BACH2
19 0.695 0.360 6 90267049 intron variant G/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs756763
rs756763
CA10
2 1.000 0.040 17 51671952 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs977706
rs977706 		2 1.000 0.040 17 13456118 intergenic variant A/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs10004195
rs10004195
TLR10
8 0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs1053005
rs1053005
STAT3
10 0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs1059703
rs1059703
IRAK1
6 0.851 0.280 X 154013378 missense variant G/A snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs1061501
rs1061501
IRF7
4 0.851 0.200 11 614864 synonymous variant C/T snv 0.83 0.85 0.010 1.000 1 2019 2019
dbSNP: rs10774625
rs10774625
ATXN2
13 0.763 0.320 12 111472415 intron variant A/G snv 0.66 0.010 1.000 1 2016 2016
dbSNP: rs111033243
rs111033243
SLC26A4
5 0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04 0.010 1.000 1 2010 2010
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2015 2015