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: rs1085307120
rs1085307120
1 1.000 4 55974970 splice donor variant G/A snv 0.700 0
dbSNP: rs1553895368
rs1553895368
1 1.000 4 56017775 frameshift variant TT/- del 0.700 0
dbSNP: rs202247811
rs202247811
1 1.000 4 55965785 frameshift variant C/- del 0.700 0
dbSNP: rs752140135
rs752140135
1 1.000 4 55965689 stop gained C/T snv 3.6E-05 6.3E-05 0.700 0