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: rs11466112
rs11466112
3 1.000 0.080 1 115286135 missense variant G/A snv 1.6E-05 7.0E-06 0.030 1.000 3 2009 2019
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.030 1.000 3 2009 2015
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.020 1.000 2 2014 2016
dbSNP: rs5277
rs5277
9 0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 0.020 1.000 2 2012 2015
dbSNP: rs748653984
rs748653984
2 1.000 0.080 1 156868159 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.020 1.000 2 2010 2011
dbSNP: rs778056858
rs778056858
2 1.000 0.080 1 156866944 missense variant T/C snv 8.0E-06 7.0E-06 0.020 1.000 2 2010 2011
dbSNP: rs1200746244
rs1200746244
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1571138
rs1571138
1 1 46429969 upstream gene variant A/G snv 0.73 0.010 1.000 1 2016 2016
dbSNP: rs1676486
rs1676486
7 0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs2206593
rs2206593
3 0.925 0.080 1 186673297 3 prime UTR variant A/G snv 0.95 0.010 1.000 1 2015 2015
dbSNP: rs2295633
rs2295633
7 0.827 0.120 1 46408711 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2383515
rs2383515
1 1 186683820 upstream gene variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs324419
rs324419
3 0.925 0.120 1 46406314 stop gained T/A;C snv 0.87 0.010 1.000 1 2012 2012
dbSNP: rs3766246
rs3766246
2 1 46399999 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs3845446
rs3845446
3 1 181797301 intron variant T/C snv 6.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs3862188
rs3862188
2 1.000 0.040 1 247702471 intron variant T/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs3872309
rs3872309
1 1 16564838 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs4660928
rs4660928
1 1 46420268 TF binding site variant A/C snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs6334
rs6334
3 1.000 0.080 1 156876441 missense variant G/A;C;T snv 0.22; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs769854785
rs769854785
1 1 156871656 synonymous variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs943552
rs943552
2 1 156885826 downstream gene variant C/T snv 9.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs6746030
rs6746030
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.040 1.000 4 2010 2018
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.020 1.000 2 2014 2016