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: rs1048638
rs1048638
CA9
10 0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.720 1.000 3 2008 2019
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: rs1049112
rs1049112
PRH1 ; PRH2 ; PRR4 ; PRH1-PRR4
1 1.000 0.080 12 10930757 missense variant A/G;T snv 0.11; 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs10491121
rs10491121
CCL4 ; LOC101927369
5 0.882 0.120 17 36102943 upstream gene variant G/A snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs1049334
rs1049334
CAV1
6 0.851 0.280 7 116560326 3 prime UTR variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1049606
rs1049606
CCND2 ; CCND2-AS1
4 0.851 0.160 12 4273870 5 prime UTR variant C/T snv 0.58 0.010 < 0.001 1 2010 2010
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2016 2016
dbSNP: rs10514231
rs10514231
ATG10
6 0.807 0.160 5 82011593 intron variant C/T snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.030 1.000 3 1996 2014
dbSNP: rs1051792
rs1051792
MICA
5 0.851 0.240 6 31411200 missense variant G/A snv 0.34 0.35 0.010 1.000 1 2018 2018
dbSNP: rs10519613
rs10519613
IL15
3 1.000 0.080 4 141732931 3 prime UTR variant C/A snv 0.10 0.010 1.000 1 2017 2017
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.070 1.000 7 2006 2019
dbSNP: rs1053004
rs1053004
STAT3
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.040 0.750 4 2013 2019
dbSNP: rs1053096
rs1053096
NPAS2
1 1.000 0.080 2 100996153 3 prime UTR variant T/C snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs1053133
rs1053133
BYSL
2 1.000 0.080 6 41932887 3 prime UTR variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1054690270
rs1054690270
GPT ; LOC101928953
5 0.827 0.160 8 144505907 frameshift variant CT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs1057035
rs1057035
DICER1
12 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 0.020 1.000 2 2013 2017
dbSNP: rs1057317
rs1057317
TLR4
5 0.827 0.160 9 117715764 3 prime UTR variant C/A snv 0.010 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: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016