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: rs11889031
rs11889031
LOC101927840
1 1.000 0.080 2 203934671 upstream gene variant C/T snv 0.15 0.010 1.000 1 2011 2011
dbSNP: rs1190271
rs1190271
POPDC3
1 1.000 0.080 6 105176946 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2014 2014
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1256054
rs1256054
ESR2
3 0.882 0.120 14 64249595 synonymous variant G/C snv 2.8E-03 9.6E-04 0.010 1.000 1 2010 2010
dbSNP: rs12774070
rs12774070
ADAMTS14
4 0.925 0.120 10 70753879 missense variant C/A;G snv 0.23 0.19 0.010 1.000 1 2017 2017
dbSNP: rs12918952
rs12918952
WWOX
7 0.851 0.120 16 78386878 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1292037
rs1292037
VMP1 ; MIR21
6 0.827 0.200 17 59841547 3 prime UTR variant T/C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs13042395
rs13042395
SLC52A3
13 0.752 0.160 20 773867 intron variant C/T snv 5.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs13140012
rs13140012
MTNR1A ; LOC105377596
6 0.827 0.320 4 186544404 intron variant T/A snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008
dbSNP: rs13252298
rs13252298
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
8 0.827 0.160 8 127082911 non coding transcript exon variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs13293512
rs13293512 		11 0.763 0.360 9 94167461 intron variant T/C snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs135745
rs135745 		13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1360485
rs1360485
HMGB1
16 0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs14304
rs14304
CCL18
2 1.000 0.080 17 36071135 3 prime UTR variant T/C snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs145204276
rs145204276
GAS5 ; ZBTB37 ; SNORD74 ; SNORD75 ; SNORD76 ; SNORD77 ; SNORA103
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1455751791
rs1455751791
ESR1
3 0.882 0.120 6 152011735 synonymous variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1478604
rs1478604
THBS1
9 0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs1536309
rs1536309
MIR146B
7 0.851 0.160 10 102435445 upstream gene variant A/G snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs16893344
rs16893344
CCN4
7 0.807 0.160 8 133194036 intron variant C/T snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs16949649
rs16949649
NME1 ; NME1-NME2
12 0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39 0.010 1.000 1 2012 2012