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: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.020 1.000 2 2009 2020
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 0.500 2 2009 2018
dbSNP: rs1056123575
rs1056123575
ADAMTS1
4 0.925 0.080 21 26844557 missense variant G/A snv 4.2E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1172398253
rs1172398253
CCN1
4 0.925 0.080 1 85582045 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1213469537
rs1213469537
CAV1
9 0.882 0.080 7 116559145 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2009 2009
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: 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: rs1472189
rs1472189
DKK3
1 11 11962338 3 prime UTR variant C/T snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
16 0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs766914563
rs766914563
CXCR4 ; LOC112268426
16 0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs781172058
rs781172058
CXCR4
16 0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.040 1.000 4 2010 2015
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2010 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2010 2014
dbSNP: rs752021744
rs752021744
PIK3CB
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.020 1.000 2 2010 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2010 2014
dbSNP: rs931127
rs931127
SIPA1 ; PCNX3
12 0.790 0.160 11 65637829 upstream gene variant G/A snv 0.49 0.020 1.000 2 2010 2013
dbSNP: rs1219211410
rs1219211410
CDC25B
3 0.925 0.080 20 3800494 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1458974438
rs1458974438
STK11
9 0.807 0.080 19 1206957 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs200246209
rs200246209
MMP7
1 11 102527789 synonymous variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs2230774
rs2230774
ROCK2
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs3731499
rs3731499
CDC25A
3 0.925 0.080 3 48184680 missense variant G/A snv 5.7E-05 1.2E-04 0.010 1.000 1 2010 2010