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: rs11688943
rs11688943
PPIL3
1 1.000 0.120 2 200875545 intron variant T/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs11715604
rs11715604
NCK1
4 0.851 0.160 3 136870707 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11755724
rs11755724
RREB1
7 0.807 0.320 6 7118757 intron variant A/G;T snv 0.700 1.000 1 2019 2019
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: rs1292034
rs1292034
RPS6KB1
3 0.882 0.160 17 59912499 intron variant G/A snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs12953717
rs12953717
SMAD7
18 0.724 0.240 18 48927559 intron variant C/T snv 0.36 0.010 < 0.001 1 2008 2008
dbSNP: rs13015798
rs13015798
FAM126B
2 0.925 0.120 2 201044792 intron variant A/G snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs131821
rs131821
NCAPH2
4 0.851 0.160 22 50511648 intron variant T/-;TT;TTT;TTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs13401811
rs13401811
ACOXL
2 0.925 0.120 2 110858527 intron variant G/A snv 0.19 0.800 1.000 1 2013 2013
dbSNP: rs139996880
rs139996880
TERT
3 0.882 0.120 5 1284538 intron variant G/A snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs140099016
rs140099016
PCAT1 ; CASC19
2 0.925 0.120 8 127183089 intron variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1439112
rs1439112
MGAT5
4 0.851 0.160 2 134305027 intron variant G/A snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs149207840
rs149207840
SP140
4 0.851 0.160 2 230279864 intron variant CTGCCTC/-;CTGCCTCCTGCCTC delins 0.15 0.700 1.000 1 2017 2017
dbSNP: rs17024869
rs17024869
NPAS2
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs17676986
rs17676986
SND1 ; SND1-IT1 ; LOC105375492
1 1.000 0.120 7 127996905 intron variant C/T snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs1776948
rs1776948
SLC23A2
1 1.000 0.120 20 4950467 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs181181503
rs181181503
LOC100507377
4 0.851 0.160 12 74276187 intron variant T/C snv 1.5E-03 0.700 1.000 1 2017 2017
dbSNP: rs2072135
rs2072135
OAS3
2 0.925 0.120 12 112961374 intron variant C/T snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs210134
rs210134
BAK1 ; GGNBP1
3 1.000 0.120 6 33572432 intron variant A/G snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs2147420
rs2147420
FAS
1 1.000 0.120 10 88999856 intron variant A/G snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs2267708
rs2267708
GPR37
2 0.925 0.120 7 124752458 intron variant C/T snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs228014
rs228014
ASTN1
1 1.000 0.120 1 177002472 intron variant T/C snv 0.58 0.010 < 0.001 1 2009 2009
dbSNP: rs2292982
rs2292982
IRF8
3 1.000 0.120 16 85911217 intron variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs2293157
rs2293157
STAT5A
9 0.763 0.120 17 42300657 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2396718
rs2396718
SP110
2 0.925 0.120 2 230179539 intron variant T/C snv 6.7E-02 0.700 1.000 1 2016 2016