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: rs587776545
rs587776545
1 1 55043920 inframe deletion GCC/- delins 0.700 0
dbSNP: rs67608943
rs67608943
8 0.851 0.080 1 55046549 stop gained C/G;T snv 1.9E-04 0.700 0