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: rs1057518764
rs1057518764
6 0.827 0.200 17 49991807 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1568793309
rs1568793309
3 0.882 0.120 20 10643851 frameshift variant G/- del 0.700 0
dbSNP: rs28939668
rs28939668
6 0.807 0.200 20 10652533 missense variant C/T snv 0.010 1.000 1 2003 2003