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: rs878853146
rs878853146
1 1.000 0.200 X 29917576 frameshift variant TTGGGAAAGT/- delins 0.700 0