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: rs2549794
rs2549794
1 1.000 0.040 5 96908845 intron variant C/T snv 0.62 0.800 1.000 1 2010 2010
dbSNP: rs1363907
rs1363907
2 1.000 0.040 5 96917099 intron variant G/A snv 0.38 0.700 1.000 2 2015 2017
dbSNP: rs2910686
rs2910686
5 0.827 0.120 5 96916885 intron variant T/C snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs4869313
rs4869313
14 0.724 0.240 5 96888176 intron variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1437138510
rs1437138510
1 1.000 0.040 5 96909646 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2248374
rs2248374
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.010 1.000 1 2017 2017