Source: ALL
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 0.700 1.000 3 1999 2016
dbSNP: rs397516695
rs397516695
DES
4 0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05 0.700 1.000 3 1999 2016
dbSNP: rs59962885
rs59962885
DES
11 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.700 0