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: rs8034191
rs8034191
HYKK
24 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.880 1.000 10 2009 2018
dbSNP: rs12914385
rs12914385
CHRNA3
18 0.790 0.160 15 78606381 intron variant C/A;T snv 0.810 1.000 7 2011 2018
dbSNP: rs7671167
rs7671167
FAM13A
7 0.925 0.040 4 88962828 intron variant C/T snv 0.53 0.840 1.000 6 2010 2015
dbSNP: rs13118928
rs13118928 		7 0.925 0.040 4 144565237 intron variant A/G snv 0.33 0.830 1.000 4 2010 2017
dbSNP: rs13141641
rs13141641 		8 1.000 0.040 4 144585304 intron variant T/C snv 0.32 0.800 1.000 4 2012 2017
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.040 1.000 4 2004 2017
dbSNP: rs1828591
rs1828591
LOC105377462
5 1.000 0.040 4 144559628 intron variant A/G snv 0.43 0.820 1.000 4 2009 2013
dbSNP: rs2869967
rs2869967
FAM13A ; LOC105377327
11 0.827 0.120 4 88948181 intron variant T/C snv 0.49 0.820 0.750 4 2010 2015
dbSNP: rs754388
rs754388
RIN3
7 0.882 0.120 14 92649065 intron variant G/C;T snv 0.700 1.000 4 2014 2019
dbSNP: rs7937
rs7937
RAB4B ; MIA-RAB4B ; RAB4B-EGLN2
6 0.851 0.080 19 40796801 3 prime UTR variant C/A;T snv 0.49 0.830 1.000 4 2012 2018
dbSNP: rs17486278
rs17486278
CHRNA5
9 0.827 0.120 15 78575140 intron variant A/C snv 0.32 0.700 1.000 3 2015 2017
dbSNP: rs1800463
rs1800463
SERPINA3
2 1.000 0.040 14 94614674 missense variant T/A;C snv 0.030 1.000 3 1993 2000
dbSNP: rs1903003
rs1903003
FAM13A
4 0.925 0.080 4 88965146 intron variant C/G;T snv 0.710 1.000 3 2010 2015
dbSNP: rs1982073
rs1982073
TGFB1
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.030 0.333 3 2004 2017
dbSNP: rs2076295
rs2076295
DSP
5 0.882 0.080 6 7562999 intron variant T/G snv 0.46 0.710 1.000 3 2017 2019
dbSNP: rs2241712
rs2241712
B9D2 ; TMEM91
3 0.882 0.120 19 41363851 intron variant C/T snv 0.71 0.030 1.000 3 2004 2017
dbSNP: rs2241718
rs2241718
TGFB1 ; CCDC97
4 0.882 0.040 19 41323701 3 prime UTR variant G/A snv 0.15 0.030 0.667 3 2011 2017
dbSNP: rs2955083
rs2955083
EEFSEC
4 1.000 0.040 3 128242335 intron variant T/A snv 0.89 0.700 1.000 3 2017 2019
dbSNP: rs6495309
rs6495309
CHRNA3 ; CHRNB4
10 0.807 0.080 15 78622903 upstream gene variant C/A;T snv 0.030 1.000 3 2012 2014
dbSNP: rs9399401
rs9399401
ADGRG6
4 1.000 0.040 6 142347764 intron variant T/C snv 0.31 0.700 1.000 3 2017 2019
dbSNP: rs10007052
rs10007052
RNF150
1 1.000 0.040 4 141084419 intron variant C/A snv 0.31 0.710 1.000 2 2012 2015
dbSNP: rs10519717
rs10519717
LOC105377462
4 0.851 0.080 4 144559188 intron variant T/C snv 0.21 0.020 1.000 2 2017 2019
dbSNP: rs10759932
rs10759932
TLR4
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.020 1.000 2 2019 2019
dbSNP: rs11858836
rs11858836
IREB2
3 1.000 0.040 15 78490935 intron variant G/A;T snv 0.800 1.000 2 2012 2019
dbSNP: rs1441358
rs1441358
THSD4
3 1.000 0.040 15 71320175 intron variant T/G snv 0.38 0.700 1.000 2 2017 2019