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 0.020 1.000 2 2003 2008
dbSNP: rs267607486
rs267607486
DES
3 1.000 0.160 2 219420346 missense variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs267607490
rs267607490
DES
6 0.925 0.160 2 219425734 missense variant C/T snv 0.010 1.000 1 2010 2010