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: rs121965019
rs121965019
5 0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs991612107
rs991612107
4 0.882 0.120 4 1002748 stop gained G/A snv 0.010 1.000 1 2015 2015