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: rs72010703
rs72010703
2 0.925 0.080 19 29813348 intron variant TTAG/-;TTAGTTAG delins 0.010 < 0.001 1 2014 2014