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: rs1057518880
rs1057518880
1 1.000 0.080 2 32126966 frameshift variant G/- del 0.700 0
dbSNP: rs1060499939
rs1060499939
4 0.882 0.120 2 32137172 missense variant G/C;T snv 0.700 0
dbSNP: rs1553314978
rs1553314978
2 0.925 0.120 2 32114826 splice donor variant G/A;T snv 0.700 0