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: rs198389
rs198389
NPPB
10 0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs212528
rs212528
ECE1
3 0.925 0.040 1 21259168 intron variant T/C snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs213045
rs213045
ECE1
5 0.851 0.120 1 21290752 intron variant G/T snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs2229238
rs2229238
IL6R
5 0.851 0.080 1 154465420 3 prime UTR variant T/A;C snv 0.80 0.010 1.000 1 2011 2011
dbSNP: rs2453021
rs2453021
TNFRSF9
6 0.807 0.080 1 7929506 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
dbSNP: rs2820315
rs2820315
LMOD1
5 0.882 0.040 1 201903136 intron variant C/T snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs28362286
rs28362286
PCSK9
6 0.851 0.080 1 55063542 stop gained C/A;T snv 5.6E-04 0.010 1.000 1 2009 2009
dbSNP: rs3091244
rs3091244
CRP
17 0.724 0.280 1 159714875 upstream gene variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs3811381
rs3811381
CR1
11 0.763 0.240 1 207616743 missense variant C/A;G snv 8.0E-06; 0.24 0.010 1.000 1 2009 2009
dbSNP: rs3850641
rs3850641
TNFSF4
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs3861950
rs3861950
TNFSF4
7 0.827 0.160 1 173187153 intron variant T/C snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2010 2010
dbSNP: rs4606
rs4606
RGS2
16 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs4845617
rs4845617
IL6R ; IL6R-AS1
4 0.882 0.080 1 154405422 5 prime UTR variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs4845623
rs4845623
IL6R
4 0.925 0.040 1 154443301 intron variant A/G snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs4916251
rs4916251
PIGC ; DNM3
3 0.882 0.040 1 172377256 intron variant T/A snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs587745372
rs587745372
GJA5 ; LOC102723321
7 0.851 0.240 1 147773383 upstream gene variant T/A snv 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs6136
rs6136
SELP
17 0.752 0.440 1 169594713 missense variant T/G snv 8.2E-02 7.5E-02 0.010 1.000 1 2006 2006
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.010 1.000 1 2014 2014
dbSNP: rs6666258
rs6666258
KCNN3
3 0.882 0.080 1 154841792 intron variant G/C snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs67608943
rs67608943
PCSK9
8 0.851 0.080 1 55046549 stop gained C/G;T snv 1.9E-04 0.010 1.000 1 2009 2009