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: rs199422214
rs199422214
1 1.000 0.080 8 24955888 stop gained C/A;G snv 1.7E-05 0.700 0
dbSNP: rs121913663
rs121913663
1 1.000 0.080 8 24956098 stop gained C/A;T snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs58982919
rs58982919
10 0.790 0.080 8 24956223 missense variant T/C snv 0.700 1.000 2 2003 2004
dbSNP: rs58332872
rs58332872
5 0.882 0.080 8 24956248 missense variant C/T snv 0.700 0
dbSNP: rs61491953
rs61491953
2 0.925 0.080 8 24956493 missense variant G/A;C;T snv 0.700 1.000 2 2003 2004
dbSNP: rs60261494
rs60261494
3 0.882 0.080 8 24956493 missense variant GG/CT mnv 0.800 0