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: rs1563764078
rs1563764078
2 1.000 0.160 9 2648349 splice donor variant T/C snv 0.700 0
dbSNP: rs397514750
rs397514750
1 1.000 0.160 9 2650382 missense variant G/T snv 0.700 0
dbSNP: rs398122380
rs398122380
1 1.000 0.160 9 2645017 frameshift variant TACAAGT/- delins 0.700 0
dbSNP: rs80338905
rs80338905
1 1.000 0.160 9 2645603 stop gained C/A;T snv 0.700 0
dbSNP: rs80338906
rs80338906
2 0.925 0.160 9 2651877 frameshift variant T/- del 0.700 0
dbSNP: rs80338907
rs80338907
2 0.925 0.160 9 2643480 stop gained C/A;T snv 4.0E-06 0.700 0