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: rs121913002
rs121913002
DES
7 0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04 0.010 1.000 1 2003 2003
dbSNP: rs121913003
rs121913003
DES
6 0.882 0.200 2 219421532 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs59962885
rs59962885
DES
11 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.010 1.000 1 1998 1998
dbSNP: rs61368398
rs61368398
DES
2 1.000 0.160 2 219421380 missense variant G/A;C;T snv 3.2E-05 0.010 1.000 1 2005 2005