Source: CURATED ×
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: rs11540652
rs11540652
TP53
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 3 2004 2016
dbSNP: rs121913343
rs121913343
TP53
29 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 3 2004 2016
dbSNP: rs121913274
rs121913274
PIK3CA
30 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.800 1.000 2 2005 2016
dbSNP: rs1554040964
rs1554040964
TERT
1 1.000 0.080 5 1279417 missense variant C/G snv 0.700 1.000 2 2013 2017
dbSNP: rs17401966
rs17401966
KIF1B
2 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.900 0.833 2 2010 2019
dbSNP: rs2596542
rs2596542
MICA ; MICA-AS1
5 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.900 1.000 2 2011 2019
dbSNP: rs28931589
rs28931589
CTNNB1
13 0.695 0.240 3 41224613 missense variant G/A;C;T snv 0.710 1.000 2 2014 2016
dbSNP: rs3096380
rs3096380
CMTR2
1 1.000 0.080 16 71285743 missense variant G/A;C snv 0.94 0.700 1.000 2 2019 2019
dbSNP: rs34675408
rs34675408
OSMR
1 1.000 0.080 5 38883969 missense variant T/G snv 8.3E-02 9.7E-02 0.700 1.000 2 2019 2019
dbSNP: rs4678680
rs4678680
LOC105377022
1 1.000 0.080 3 32978543 intergenic variant G/T snv 0.73 0.810 1.000 2 2010 2016
dbSNP: rs584368
rs584368 		1 1.000 0.080 11 88232053 regulatory region variant C/T snv 0.70 0.700 1.000 2 2019 2019
dbSNP: rs6078460
rs6078460 		1 1.000 0.080 20 12116249 intergenic variant A/C;G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs913493
rs913493
PCDH9
1 1.000 0.080 13 67148073 intron variant A/G snv 0.20 0.700 1.000 2 2019 2019
dbSNP: rs9275572
rs9275572 		9 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.840 1.000 2 2011 2017
dbSNP: rs1012068
rs1012068
DEPDC5
2 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.760 1.000 1 2013 2019
dbSNP: rs10272859
rs10272859
CDK14
2 0.925 0.120 7 90689160 intron variant G/C snv 0.39 0.710 1.000 1 2018 2018
dbSNP: rs10484561
rs10484561 		4 0.827 0.160 6 32697643 intergenic variant T/G snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs104886003
rs104886003
PIK3CA
35 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.720 1.000 1 2008 2019
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
23 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
30 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
52 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
37 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
17 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
11 0.752 0.240 16 3738616 missense variant C/A;T snv 0.700 1.000 1 2016 2016