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: rs387907144
rs387907144
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs1057518918
rs1057518918
6 0.882 0.160 6 157184329 frameshift variant C/- delins 0.700 0
dbSNP: rs387907141
rs387907141
24 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
dbSNP: rs797045277
rs797045277
5 0.882 0.280 6 157198907 splice region variant G/A snv 0.700 0
dbSNP: rs869312697
rs869312697
8 0.882 0.400 6 157207241 stop gained C/T snv 0.700 0
dbSNP: rs869312712
rs869312712
3 0.925 0.360 6 157084866 stop gained C/T snv 0.700 0