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: rs397515481
rs397515481
1 1.000 0.280 8 38428048 missense variant A/G snv 0.800 1.000 2 2013 2014
dbSNP: rs398122945
rs398122945
1 1.000 0.280 8 38414164 missense variant C/T snv 0.800 1.000 2 2013 2014
dbSNP: rs398122946
rs398122946
1 1.000 0.280 8 38414889 missense variant C/A snv 0.800 1.000 2 2013 2014
dbSNP: rs869025669
rs869025669
1 1.000 0.280 8 38427970 missense variant A/G snv 0.800 1.000 2 2013 2014
dbSNP: rs869025670
rs869025670
1 1.000 0.280 8 38417954 missense variant C/G;T snv 0.800 1.000 2 2013 2014
dbSNP: rs869025671
rs869025671
1 1.000 0.280 8 38414876 missense variant C/G snv 0.800 1.000 2 2013 2014
dbSNP: rs869025672
rs869025672
2 0.925 0.320 8 38414872 missense variant A/C;G snv 8.0E-06 0.800 1.000 2 2013 2014
dbSNP: rs121909641
rs121909641
9 0.763 0.520 8 38419720 missense variant G/A snv 0.700 0
dbSNP: rs1554548253
rs1554548253
1 1.000 0.280 8 38414835 missense variant C/T snv 0.700 0
dbSNP: rs1554551657
rs1554551657
1 1.000 0.280 8 38417363 inframe deletion ATC/- delins 0.700 0
dbSNP: rs1554551667
rs1554551667
1 1.000 0.280 8 38417365 missense variant A/T snv 0.700 0
dbSNP: rs1563433902
rs1563433902
1 1.000 0.280 8 38414611 missense variant A/G snv 0.700 0
dbSNP: rs1563436265
rs1563436265
2 1.000 0.280 8 38414875 missense variant C/G snv 0.700 0
dbSNP: rs515726224
rs515726224
3 0.925 0.320 8 38417962 missense variant C/T snv 0.700 0
dbSNP: rs780009859
rs780009859
1 1.000 0.280 8 38414887 missense variant G/A;C snv 3.2E-05 1.4E-05 0.700 0
dbSNP: rs876661332
rs876661332
1 1.000 0.280 8 38417968 missense variant C/A snv 0.700 0
dbSNP: rs1444167285
rs1444167285
1 1.000 0.280 8 38413994 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019