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: rs75462234
rs75462234
4 0.851 0.160 10 100749772 frameshift variant G/-;GG;GGG delins 0.700 1.000 1 2017 2017