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: rs5742904
rs5742904
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.800 1.000 14 1990 2017
dbSNP: rs144467873
rs144467873
9 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.700 1.000 1 2016 2016
dbSNP: rs12713559
rs12713559
10 0.776 0.120 2 21006196 missense variant G/A snv 3.4E-04 5.0E-04 0.030 1.000 3 1997 2006
dbSNP: rs1226992086
rs1226992086
2 0.925 0.080 2 21041055 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs12720762
rs12720762
2 0.925 0.080 2 21043787 intron variant C/G snv 4.8E-03 0.010 1.000 1 2013 2013
dbSNP: rs151009667
rs151009667
2 0.925 0.080 2 21011802 missense variant C/T snv 1.3E-03 1.4E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs200353509
rs200353509
4 0.882 0.120 2 21035701 missense variant G/A;C;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 1998 1998
dbSNP: rs693
rs693
24 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.010 1.000 1 2019 2019