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: rs193920817
rs193920817
3 0.925 0.160 17 7675131 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs530941076
rs530941076
21 0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs730882000
rs730882000
1 1.000 0.120 17 7675137 missense variant C/G;T snv 0.010 1.000 1 2008 2008