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: rs6457327
rs6457327
7 0.790 0.320 6 31106253 downstream gene variant A/C snv 0.66 0.700 1.000 1 2009 2009
dbSNP: rs10484561
rs10484561
6 0.827 0.160 6 32697643 intergenic variant T/G snv 0.13 0.700 1.000 1 2010 2010
dbSNP: rs735665
rs735665
8 0.776 0.280 11 123490689 intron variant G/A snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs2647012
rs2647012
7 0.790 0.320 6 32696681 intergenic variant T/C snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs11082438
rs11082438
1 1.000 0.120 18 45285245 intron variant G/T snv 8.3E-02 0.700 1.000 1 2014 2014
dbSNP: rs12195582
rs12195582
1 1.000 0.120 6 32476767 upstream gene variant C/T snv 0.39 0.700 1.000 1 2014 2014
dbSNP: rs13254990
rs13254990
4 0.882 0.120 8 128064205 intron variant C/T snv 0.24 0.700 1.000 1 2014 2014
dbSNP: rs17749561
rs17749561
2 0.925 0.120 18 63115978 intergenic variant G/A snv 5.9E-02 0.700 1.000 1 2014 2014
dbSNP: rs2681416
rs2681416
2 0.925 0.120 3 122098766 intron variant G/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs3751913
rs3751913
1 1.000 0.120 17 82447676 non coding transcript exon variant T/C snv 0.19 0.19 0.700 1.000 1 2014 2014
dbSNP: rs4937362
rs4937362
5 0.827 0.240 11 128622844 intron variant T/C snv 0.49 0.700 1.000 1 2014 2014
dbSNP: rs4938573
rs4938573
4 0.851 0.280 11 118871133 regulatory region variant C/T snv 0.79 0.700 1.000 1 2014 2014
dbSNP: rs6444305
rs6444305
LPP
2 0.925 0.120 3 188582114 intron variant G/A;C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018