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: rs3129891
rs3129891
5 0.851 0.160 6 32447303 downstream gene variant G/A snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs1881457
rs1881457
9 0.790 0.280 5 132656717 intron variant A/C snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs224222
rs224222
15 0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21 0.010 1.000 1 2012 2012
dbSNP: rs806378
rs806378
2 1.000 0.040 6 88149832 intron variant C/T snv 0.21 0.020 1.000 2 2011 2013
dbSNP: rs10474485
rs10474485
2 1.000 0.040 5 76975028 intron variant C/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.020 0.500 2 2011 2014
dbSNP: rs1800532
rs1800532
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.010 1.000 1 2014 2014
dbSNP: rs684302
rs684302
1 1.000 0.040 11 18038806 intron variant C/T snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2004 2004
dbSNP: rs7130929
rs7130929
1 1.000 0.040 11 18046616 upstream gene variant C/A snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2019 2019
dbSNP: rs7209436
rs7209436
5 0.851 0.200 17 45792776 intron variant C/T snv 0.43 0.030 1.000 3 2012 2016
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2008 2008
dbSNP: rs242924
rs242924
3 0.882 0.080 17 45808001 intron variant G/T snv 0.44 0.020 1.000 2 2012 2016
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2011 2017
dbSNP: rs11554825
rs11554825
3 0.882 0.120 2 218261086 5 prime UTR variant C/T snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.040 0.250 4 2008 2014
dbSNP: rs3779250
rs3779250
2 0.925 0.080 7 30654644 intron variant C/T snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs4537731
rs4537731
3 1.000 0.040 11 18047335 upstream gene variant T/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs11190140
rs11190140
6 0.827 0.160 10 99531836 upstream gene variant T/C snv 0.55 0.010 1.000 1 2012 2012
dbSNP: rs4722999
rs4722999
5 0.851 0.080 7 30654159 intron variant C/T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 0.500 2 2013 2019
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2017 2019
dbSNP: rs6478108
rs6478108
10 0.763 0.200 9 114796423 intron variant C/T snv 0.73 0.010 1.000 1 2019 2019