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: rs481931
rs481931
3 0.882 0.120 1 94104460 intron variant G/T snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs1325474
rs1325474
1 1.000 0.080 6 83829706 intergenic variant G/A snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs387907141
rs387907141
24 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
dbSNP: rs116998555
rs116998555
3 0.882 0.080 2 218890118 missense variant C/A;T snv 4.0E-06; 1.9E-03 0.010 1.000 1 2014 2014
dbSNP: rs142343894
rs142343894
4 0.851 0.080 1 240493250 missense variant G/C snv 1.7E-03 1.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs147680216
rs147680216
11 0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04 0.010 1.000 1 2014 2014