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: rs1560165127
rs1560165127
2 0.925 0.080 4 13542487 frameshift variant TG/- del 0.700 1.000 1 2019 2019
dbSNP: rs606231352
rs606231352
1 1.000 0.080 4 13544078 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs606231353
rs606231353
1 1.000 0.080 4 13544078 frameshift variant CC/A delins 0.700 0
dbSNP: rs606231354
rs606231354
1 1.000 0.080 4 13544305 frameshift variant GGGCGCC/- delins 0.700 0