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: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs80359030
rs80359030
6 0.851 13 32363189 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs886040738
rs886040738
7 0.851 13 32363188 frameshift variant G/- delins 0.010 1.000 1 2016 2016