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: rs11178997
rs11178997
5 0.827 0.040 12 71938373 upstream gene variant T/A snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs1386494
rs1386494
7 0.790 0.120 12 71958763 intron variant T/C;G snv 0.82 0.010 1.000 1 2016 2016
dbSNP: rs2251214
rs2251214
7 0.827 0.040 12 79430071 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2012 2012
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs6323
rs6323
7 0.807 0.040 X 43731789 synonymous variant G/T snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs7305115
rs7305115
8 0.807 0.200 12 71979082 synonymous variant A/C;G;T snv 4.0E-06; 0.56 0.010 1.000 1 2016 2016