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: rs10788679
rs10788679
ARHGEF10L
2 0.925 0.120 1 17590467 intron variant A/G snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs11175194
rs11175194
SRGAP1
2 0.925 0.120 12 63871057 intron variant G/A snv 0.15 0.710 1.000 1 2014 2014
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs114972508
rs114972508
EGFR ; LOC105375284
2 0.925 0.120 7 55020815 intron variant T/C snv 1.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs115344852
rs115344852
GPX6
1 1.000 0.120 6 28518321 intron variant A/C snv 0.700 1.000 1 2015 2015
dbSNP: rs11651755
rs11651755
HNF1B
9 0.763 0.160 17 37739849 intron variant T/C snv 0.52 0.010 1.000 1 2013 2013
dbSNP: rs11696662
rs11696662
PLCG1
2 0.925 0.120 20 41161795 intron variant C/T snv 4.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs1192691
rs1192691 		2 0.925 0.120 10 36880367 regulatory region variant G/T snv 0.90 0.710 1.000 1 2014 2014
dbSNP: rs12039431
rs12039431
RSPO1
1 1.000 0.120 1 37616450 intron variant G/A snv 0.24 0.21 0.700 1.000 1 2015 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs1265794840
rs1265794840
ERCC2
6 0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs12921862
rs12921862
AXIN1
10 0.763 0.200 16 331927 intron variant C/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1413299
rs1413299
COL15A1
2 0.925 0.120 9 98998959 intron variant G/A;T snv 0.710 1.000 1 2014 2014
dbSNP: rs142091544
rs142091544 		2 0.925 0.120 5 168286995 upstream gene variant C/T snv 2.1E-02 0.710 1.000 1 2019 2019
dbSNP: rs1456079929
rs1456079929
PGR
5 0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs146314922
rs146314922
NLRP2
2 0.925 0.120 19 54982828 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs149652370
rs149652370
RUVBL1
2 0.925 0.120 3 128084115 non coding transcript exon variant A/G snv 1.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs1574560
rs1574560 		1 1.000 0.120 3 166329716 intergenic variant T/C snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs1614627
rs1614627 		1 1.000 0.120 1 20620263 downstream gene variant A/C snv 0.86 0.700 1.000 1 2018 2018
dbSNP: rs1649942
rs1649942
NRG3
3 0.925 0.120 10 82191935 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs16917496
rs16917496
KMT5A
21 0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv 0.010 1.000 1 2012 2012
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
dbSNP: rs17106154
rs17106154
RAD51B
2 0.925 0.120 14 68694457 non coding transcript exon variant T/C snv 7.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs17130142
rs17130142
PKN2-AS1
1 1.000 0.120 1 87773925 intron variant G/A snv 6.5E-02 0.700 1.000 1 2018 2018