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: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.020 1.000 2 2005 2007
dbSNP: rs2295080
rs2295080
MTOR
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.020 1.000 2 2014 2016
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.020 1.000 2 2007 2017
dbSNP: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.020 1.000 2 2003 2015
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: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.020 1.000 2 2012 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: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1051660
rs1051660
OPRK1
3 1.000 0.080 8 53251002 synonymous variant C/A;T snv 0.11 0.010 < 0.001 1 2017 2017
dbSNP: rs1052667
rs1052667
ARHGAP35
6 0.882 0.040 19 47004177 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1053129
rs1053129
DHFR
1 5 80626901 3 prime UTR variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2017 2017
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: rs1057519783
rs1057519783
ALK
10 0.851 0.080 2 29220747 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519816
rs1057519816
ERBB2
14 0.763 0.200 17 39711955 missense variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2017 2017
dbSNP: rs1057519864
rs1057519864
AR
8 0.851 0.080 X 67723707 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519874
rs1057519874
RAC1
9 0.807 0.120 7 6387261 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519902
rs1057519902
H3-3A
16 0.742 0.160 1 226064451 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519904
rs1057519904
H3C11
17 0.742 0.080 6 27872233 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10814325
rs10814325
RECK
7 0.827 0.200 9 36036597 upstream gene variant T/A;C;G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs10964859
rs10964859
IFNW1
1 9 21140673 3 prime UTR variant C/A;G snv 0.010 1.000 1 2012 2012