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: rs200834568
rs200834568
1 1.000 8 105798763 missense variant G/A;C snv 2.8E-05; 4.0E-06 0.800 1.000 1 2014 2014
dbSNP: rs187043152
rs187043152
4 0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06 0.800 0
dbSNP: rs606231252
rs606231252
1 1.000 8 105801288 missense variant T/A snv 0.800 0