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: rs2268361
rs2268361
1 1.000 0.120 2 48974473 intron variant C/T snv 0.53 0.810 1.000 2 2012 2015
dbSNP: rs2349415
rs2349415
1 1.000 0.120 2 49020693 intron variant T/C snv 0.63 0.710 1.000 2 2012 2015
dbSNP: rs10865238
rs10865238
1 1.000 0.120 2 49041665 intron variant A/G snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs6165
rs6165
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.100 0.700 10 2001 2017
dbSNP: rs6166
rs6166
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.090 0.667 9 2001 2017
dbSNP: rs11692782
rs11692782
1 1.000 0.120 2 49064754 intron variant T/A snv 0.40 0.010 1.000 1 2015 2015