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: rs1131691036
rs1131691036
TP53
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.010 1.000 1 2019 2019
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 < 0.001 1 2008 2008
dbSNP: rs115160714
rs115160714
TOPBP1
9 0.807 0.200 3 133601021 3 prime UTR variant G/A snv 5.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2005 2005
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1179251
rs1179251
IL22 ; LOC105369818
14 0.763 0.320 12 68251271 intron variant C/G snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs11902171
rs11902171
ITGAV
6 0.925 0.080 2 186678500 3 prime UTR variant G/C snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs121913366
rs121913366
BRAF
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913512
rs121913512
KIT
9 0.851 0.120 4 54728055 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs121918461
rs121918461
PTPN11
12 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs12881063
rs12881063
LOC105370397 ; LOC107984671
3 1.000 0.080 14 20788017 downstream gene variant G/C snv 7.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs1340026226
rs1340026226
AR
3 1.000 0.080 X 67711662 missense variant G/A snv 9.5E-06 0.010 1.000 1 2009 2009
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1458974438
rs1458974438
STK11
9 0.807 0.080 19 1206957 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1490204625
rs1490204625
RASA1
5 0.925 0.160 5 87268486 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1553260624
rs1553260624
H3-3A
14 0.763 0.080 1 226064454 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs16940
rs16940
BRCA1
5 0.882 0.080 17 43093220 synonymous variant A/G snv 0.35 0.29 0.010 1.000 1 2014 2014
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2010 2010
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs1800624
rs1800624
AGER ; PBX2
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1800625
rs1800625
AGER ; PBX2
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2017 2017