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: rs5780192
rs5780192
1 1 203688474 intron variant T/-;TT;TTT delins 0.700 1.000 1 2016 2016