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: rs397515415
rs397515415
10 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0
dbSNP: rs886041936
rs886041936
14 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0