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: rs727502780
rs727502780
1 1.000 16 72788111 inframe insertion TAGTTGCCGCTGCTGCTGCTGCTG/-;TAGTTGCCGCTGCTGCTGCTGCTGTAGTTGCCGCTGCTGCTGCTGCTG delins 3.4E-04 0.700 0