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: rs693
rs693
24 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.710 1.000 2 2011 2016
dbSNP: rs1042031
rs1042031
11 0.790 0.200 2 21002881 stop gained C/A;T snv 8.0E-06; 0.15 0.010 1.000 1 2016 2016
dbSNP: rs5742904
rs5742904
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 1992 1992
dbSNP: rs749903604
rs749903604
3 0.882 0.080 2 21042450 missense variant G/A snv 8.0E-06 0.010 1.000 1 2006 2006