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: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.030 1.000 3 2014 2019
dbSNP: rs2383206
rs2383206
CDKN2B-AS1
17 0.742 0.320 9 22115027 intron variant A/G snv 0.49 0.720 1.000 3 2008 2013
dbSNP: rs4773144
rs4773144
COL4A1 ; COL4A2
7 0.827 0.080 13 110308365 intron variant A/G snv 0.42 0.810 1.000 3 2011 2016
dbSNP: rs6725887
rs6725887
WDR12
4 0.851 0.080 2 202881162 intron variant T/C snv 8.9E-02 0.800 1.000 3 2011 2014
dbSNP: rs6903956
rs6903956
ADTRP
10 0.763 0.160 6 11774350 intron variant A/G snv 0.65 0.720 1.000 3 2011 2015
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.810 1.000 3 2010 2016
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.720 1.000 3 2008 2011
dbSNP: rs944797
rs944797
CDKN2B-AS1
5 0.882 0.120 9 22115287 intron variant T/C;G snv 0.49 0.800 1.000 3 2011 2013
dbSNP: rs10401969
rs10401969
SUGP1
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.800 1.000 2 2011 2016
dbSNP: rs10846744
rs10846744
SCARB1
11 0.763 0.160 12 124827879 intron variant G/C snv 0.32 0.020 1.000 2 2017 2018
dbSNP: rs11014166
rs11014166
CACNB2
10 0.882 0.040 10 18419869 intron variant A/T snv 0.27 0.710 1.000 2 2010 2011
dbSNP: rs11057830
rs11057830
SCARB1
5 0.851 0.040 12 124822507 intron variant G/A snv 0.15 0.710 1.000 2 2017 2019
dbSNP: rs11066001
rs11066001
BRAP
15 0.763 0.360 12 111681367 intron variant T/C snv 5.8E-03 0.700 1.000 2 2012 2013
dbSNP: rs12041331
rs12041331
PEAR1
11 0.776 0.200 1 156899922 intron variant G/A snv 0.19 0.020 1.000 2 2014 2017
dbSNP: rs12413409
rs12413409
CNNM2
9 0.790 0.200 10 102959339 intron variant G/A snv 9.0E-02 0.800 1.000 2 2011 2014
dbSNP: rs12524865
rs12524865
TARID
1 1.000 0.040 6 133875536 intron variant C/A snv 0.34 0.800 1.000 2 2011 2012
dbSNP: rs1412444
rs1412444
LIPA
4 0.851 0.120 10 89243170 intron variant C/T snv 0.37 0.800 1.000 2 2011 2011
dbSNP: rs17114036
rs17114036
PLPP3
5 0.851 0.120 1 56497149 intron variant A/G snv 0.11 0.800 1.000 2 2011 2014
dbSNP: rs17114046
rs17114046
PLPP3
2 0.925 0.040 1 56500678 intron variant A/G snv 0.12 0.800 1.000 2 2011 2011
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.020 1.000 2 2016 2019
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.020 1.000 2 2012 2012
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 0.500 2 2018 2019
dbSNP: rs2048327
rs2048327
SLC22A3
5 0.851 0.120 6 160442500 intron variant T/C snv 0.28 0.700 1.000 2 2009 2014
dbSNP: rs2074356
rs2074356
HECTD4
18 0.763 0.280 12 112207597 intron variant G/A snv 3.8E-03 0.700 1.000 2 2012 2013
dbSNP: rs2119289
rs2119289
FIGN
1 1.000 0.040 2 163641436 intron variant C/A;G;T snv 0.020 1.000 2 2017 2017