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: rs1057516037
rs1057516037
4 0.925 X 72464626 protein altering variant TGGAG/AC delins 0.700 1.000 1 2016 2016
dbSNP: rs1556165162
rs1556165162
7 0.882 0.120 X 72572657 frameshift variant GG/- delins 0.700 0