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: rs11045585
rs11045585
SLCO1B3 ; SLCO1B3-SLCO1B7
1 1.000 0.080 12 20892760 intron variant A/G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs11071938
rs11071938
SMAD3
1 1.000 0.080 15 67127649 intron variant C/T snv 0.27 0.010 1.000 1 2020 2020
dbSNP: rs11080466
rs11080466
PIEZO2
1 1.000 0.080 18 10899030 intron variant A/G snv 0.31 0.800 1.000 1 2012 2012
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs11207010
rs11207010
DAB1
1 1.000 0.080 1 57337214 intron variant G/C snv 0.41 0.700 1.000 1 2012 2012
dbSNP: rs1143770
rs1143770
MIR100HG ; MIRLET7A2
4 0.882 0.200 11 122146890 intron variant C/T snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs11466345
rs11466345
TGFB1
2 1.000 0.080 19 41337556 intron variant T/C snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs11574852
rs11574852
NFKB2
1 1.000 0.080 10 102401718 intron variant A/C snv 2.3E-02 2.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs11632964
rs11632964
SMAD3
2 1.000 0.080 15 67071235 intron variant C/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs11778573
rs11778573
CCN4
4 0.851 0.080 8 133216687 intron variant T/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs11943456
rs11943456
TMEM165
18 0.708 0.320 4 55410167 intron variant T/C snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs12000445
rs12000445 		1 1.000 0.080 9 23426273 intron variant A/G snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs1200399
rs1200399
BAZ1A
2 0.925 0.080 14 34823979 intron variant C/T snv 0.87 0.700 1.000 1 2019 2019
dbSNP: rs12051272
rs12051272
CDH13
3 0.925 0.120 16 82629683 intron variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs12061812
rs12061812
DAB1
1 1.000 0.080 1 57336931 intron variant C/A snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs12087888
rs12087888
DAB1
1 1.000 0.080 1 57337087 intron variant T/C snv 0.41 0.700 1.000 1 2012 2012
dbSNP: rs12265047
rs12265047
VTI1A
1 1.000 0.080 10 112728166 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs12541709
rs12541709
TNKS
2 1.000 0.080 8 9751081 intron variant C/G snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs12614710
rs12614710
EPAS1
1 1.000 0.080 2 46337952 intron variant T/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs12728900
rs12728900
LIN28A
1 1.000 0.080 1 26420316 intron variant G/A snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs12913975
rs12913975
SMAD6
2 0.925 0.160 15 66764823 intron variant G/A snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs12947788
rs12947788
TP53
8 0.776 0.280 17 7674109 intron variant G/A snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs12949918
rs12949918
STAT3
1 1.000 0.080 17 42374255 intron variant T/C snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs12951053
rs12951053
TP53
14 0.732 0.160 17 7674089 intron variant A/C snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs13042395
rs13042395
SLC52A3
13 0.752 0.160 20 773867 intron variant C/T snv 5.9E-02 0.010 1.000 1 2015 2015