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: rs2179920
rs2179920 		1 1.000 0.040 6 33091097 downstream gene variant C/T snv 0.27 0.710 1.000 1 2016 2016
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10429489
rs10429489 		2 0.925 0.080 9 21787522 intergenic variant G/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
9 0.776 0.360 11 533467 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894340
rs104894340
CDK4
5 0.827 0.200 12 57751647 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10519198
rs10519198
IREB2
2 0.925 0.080 15 78450412 intron variant C/A;G snv 0.700 1.000 1 2009 2009
dbSNP: rs1056562
rs1056562
MPZL2
1 1.000 0.040 11 118254910 3 prime UTR variant T/C snv 0.57 0.700 1.000 1 2017 2017
dbSNP: rs1057519045
rs1057519045
FGFR2
6 0.851 0.160 10 121498522 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519728
rs1057519728
MAP2K1
5 0.851 0.120 15 66435103 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519731
rs1057519731
MAP2K1
2 0.925 0.040 15 66436816 missense variant G/C snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519747
rs1057519747
TP53
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519783
rs1057519783
ALK
10 0.851 0.080 2 29220747 missense variant C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs1057519785
rs1057519785
ALK
2 1.000 0.040 2 29222404 missense variant A/C snv 0.700 1.000 1 2012 2012
dbSNP: rs1057519787
rs1057519787
ERBB2
2 1.000 0.040 17 39711952 missense variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1057519788
rs1057519788
ROS1
6 0.925 0.080 6 117317184 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519854
rs1057519854
FGFR2
7 0.882 0.080 10 121488063 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519856
rs1057519856
MAP2K1
2 0.925 0.040 15 66436815 missense variant T/A snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519876
rs1057519876
ARAF
3 0.882 0.160 X 47566721 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877
B2M ; PATL2
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016