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: rs104893885
rs104893885
1 1.000 0.280 5 44388366 missense variant C/A snv 0.800 1.000 2 2006 2006
dbSNP: rs104893886
rs104893886
1 1.000 0.280 5 44305155 missense variant A/C snv 0.800 1.000 2 2006 2006
dbSNP: rs121913112
rs121913112
1 1.000 0.280 4 1805561 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.800 1.000 1 2006 2006
dbSNP: rs121913116
rs121913116
9 0.763 0.360 4 1799395 missense variant C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs121918508
rs121918508
4 0.851 0.360 10 121488035 missense variant C/T snv 0.800 1.000 2 2006 2007
dbSNP: rs121918509
rs121918509
1 1.000 0.280 10 121488095 missense variant C/T snv 0.800 1.000 2 2006 2007
dbSNP: rs1453271838
rs1453271838
1 1.000 0.280 4 1806096 missense variant G/A snv 1.4E-05 0.710 1.000 1 2017 2017
dbSNP: rs886041251
rs886041251
3 0.882 0.360 3 189868614 missense variant C/T snv 0.010 1.000 1 2017 2017