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: rs162171
rs162171
CEP128
1 14 80794033 intron variant A/C snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs2860580
rs2860580
HLA-A
2 1.000 0.120 6 29938914 upstream gene variant A/C;G;T snv 0.700 1.000 2 2010 2016
dbSNP: rs121913274
rs121913274
PIK3CA
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913476
rs121913476
FGFR2
7 0.851 0.080 10 121498520 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1412829
rs1412829
CDKN2B-AS1
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.700 1.000 2 2010 2016
dbSNP: rs28421666
rs28421666 		2 1.000 0.120 6 32624960 upstream gene variant A/G snv 6.9E-02 0.700 1.000 2 2010 2016
dbSNP: rs9510787
rs9510787
TNFRSF19
2 1.000 0.120 13 23631056 intron variant A/G snv 0.20 0.700 1.000 2 2010 2016
dbSNP: rs17111237
rs17111237
CEP128
1 14 80939997 intron variant A/G snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs3129055
rs3129055 		2 1.000 0.120 6 29702484 regulatory region variant A/G snv 0.24 0.700 1.000 1 2009 2009
dbSNP: rs3731239
rs3731239
CDKN2A
10 0.763 0.240 9 21974219 intron variant A/G snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs1057519854
rs1057519854
FGFR2
7 0.882 0.080 10 121488063 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs31489
rs31489
CLPTM1L
10 0.763 0.320 5 1342599 intron variant C/A snv 0.41 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: rs121912660
rs121912660
TP53
26 0.683 0.240 17 7673781 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs587778720
rs587778720
TP53
31 0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs29232
rs29232 		4 0.925 0.240 6 29643654 intergenic variant C/T snv 0.39 0.700 1.000 1 2009 2009
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs6774494
rs6774494
MECOM
4 0.882 0.160 3 169364845 intron variant G/A snv 0.42 0.700 1.000 2 2010 2016
dbSNP: rs4977756
rs4977756
CDKN2B-AS1
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.700 1.000 1 2016 2016
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: rs138729528
rs138729528
TP53
25 0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
26 0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.700 1.000 1 2016 2016