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: rs748404
rs748404
TGM5
4 0.851 0.160 15 43267033 upstream gene variant T/C snv 0.17 0.710 1.000 2 2009 2011
dbSNP: rs8040868
rs8040868
CHRNA3
17 0.742 0.240 15 78618839 synonymous variant T/C snv 0.35 0.37 0.710 1.000 2 2018 2018
dbSNP: rs8042374
rs8042374
CHRNA3
10 0.807 0.200 15 78615690 intron variant A/G snv 0.29 0.710 1.000 2 2008 2011
dbSNP: rs9387478
rs9387478
DCBLD1
4 0.851 0.080 6 117465017 intron variant C/A;T snv 0.710 1.000 2 2012 2016
dbSNP: rs36600
rs36600
MTMR3
5 0.827 0.080 22 29941597 intron variant T/C snv 0.78 0.710 1.000 1 2011 2011
dbSNP: rs1057519720
rs1057519720
BRAF
4 0.851 0.080 7 140781602 missense variant CC/AA;GA mnv 0.700 1.000 9 2002 2013
dbSNP: rs121913369
rs121913369
BRAF
12 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 0.700 1.000 9 2002 2013
dbSNP: rs1057519719
rs1057519719
BRAF
2 1.000 0.080 7 140781593 missense variant T/C snv 0.700 1.000 8 2002 2013
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 8 2002 2013
dbSNP: rs115707823
rs115707823 		19 0.701 0.320 6 30374976 intergenic variant G/A snv 0.700 1.000 2 2016 2017
dbSNP: rs147680653
rs147680653 		17 0.708 0.280 6 29785031 intergenic variant A/G snv 0.700 1.000 2 2016 2017
dbSNP: rs55781567
rs55781567
CHRNA5
7 0.851 0.080 15 78565644 5 prime UTR variant C/G snv 0.31 0.700 1.000 2 2016 2017
dbSNP: rs56404467
rs56404467
FRY
17 0.708 0.280 13 32265853 intron variant G/A snv 1.3E-02 0.700 1.000 2 2016 2017
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs10436951
rs10436951
CEP170
1 1.000 0.080 1 243199378 intron variant A/G snv 7.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs1057520015
rs1057520015
ROCK1
2 1.000 0.080 18 20955181 missense variant G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1057520037
rs1057520037
EGFR
1 1.000 0.080 7 55174782 missense variant G/C snv 0.700 1.000 1 2005 2005
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs10849605
rs10849605
RAD52
4 0.882 0.080 12 955272 intron variant T/C snv 0.49 0.700 1.000 1 2012 2012
dbSNP: rs11008347
rs11008347
MALRD1
1 1.000 0.080 10 19072094 intron variant C/G snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs11168936
rs11168936
TUBA1C
17 0.708 0.280 12 49251457 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014
FGFR2
19 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs114002231
rs114002231 		1 1.000 0.080 6 31459618 intron variant G/C snv 0.700 1.000 1 2017 2017
dbSNP: rs114385935
rs114385935
LINC00533 ; LOC105374996
1 1.000 0.080 6 28651576 upstream gene variant A/G snv 0.700 1.000 1 2017 2017