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: rs9856
rs9856
XIAP
4 0.925 0.120 X 123911791 3 prime UTR variant C/T snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs9679162
rs9679162
GALNT14
4 0.882 0.120 2 31024648 intron variant G/T snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs966423
rs966423
DIRC3
11 0.776 0.200 2 217445617 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs937283
rs937283
MDM2
19 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 1.000 1 2014 2014
dbSNP: rs877610
rs877610
TRPV1
3 1.000 17 3572196 synonymous variant C/T snv 4.6E-02 7.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs868257011
rs868257011
PTEN
4 0.925 0.080 10 87961042 frameshift variant TACTT/- del 0.010 1.000 1 2013 2013
dbSNP: rs8371
rs8371
XIAP
4 0.925 0.120 X 123912065 3 prime UTR variant C/T snv 0.25 0.19 0.010 1.000 1 2017 2017
dbSNP: rs8179090
rs8179090
TIMP2
12 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs80358829
rs80358829
BRCA2
6 0.827 0.120 13 32340327 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs80338948
rs80338948
GJB2
12 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs79658334
rs79658334
RET
29 0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 0.010 1.000 1 2011 2011
dbSNP: rs78768932
rs78768932
PXN
6 0.882 0.080 12 120222977 missense variant C/G;T snv 5.4E-03 5.4E-03 0.010 1.000 1 2008 2008
dbSNP: rs777009146
rs777009146
CTNND1 ; TMX2-CTNND1
1 11 57805955 missense variant G/A snv 2.0E-05 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs774390402
rs774390402
BCAR1
1 16 75235116 missense variant A/C snv 1.2E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs772903705
rs772903705
PSD
1 10 102411788 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs772893086
rs772893086
ADARB1
4 0.925 0.080 21 45176099 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs772092699
rs772092699
EPHB2
3 0.925 0.080 1 22912497 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs771799019
rs771799019
GRAP2
1 22 39969528 missense variant G/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs771086543
rs771086543
CUEDC2 ; FBXL15
1 10 102422814 missense variant G/A snv 1.3E-04 1.0E-04 0.010 1.000 1 2006 2006
dbSNP: rs770795658
rs770795658
PGR ; PGR-AS1
1 11 101127788 missense variant C/T snv 6.1E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs765715998
rs765715998
HCK
1 20 32083944 missense variant G/A snv 2.4E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs763538721
rs763538721
HIF1A ; HIF1A-AS3
8 0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs763116801
rs763116801
TP63
1 3 189869342 missense variant A/C;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 2014 2014