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: rs1141718
rs1141718
15 0.724 0.280 6 159688224 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2016 2016
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs225014
rs225014
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.010 1.000 1 2015 2015
dbSNP: rs4753426
rs4753426
6 0.827 0.280 11 92968430 upstream gene variant T/C snv 0.49 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 0.010 1.000 1 2016 2016
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: rs6264
rs6264
DDC
2 0.925 0.040 7 50544037 missense variant T/C snv 1.00 0.99 0.010 1.000 1 2016 2016
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2010 2010