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: rs1057518951
rs1057518951
5 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0
dbSNP: rs797045283
rs797045283
11 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0