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: rs1057520900
rs1057520900
2 0.925 0.080 10 87957893 stop gained T/C;G snv 0.700 0
dbSNP: rs1085308040
rs1085308040
6 0.851 0.200 10 87961096 missense variant G/A;T snv 0.700 0
dbSNP: rs1085308053
rs1085308053
5 0.882 0.080 10 87952230 missense variant C/T snv 0.700 0
dbSNP: rs587776667
rs587776667
14 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 0