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: rs7529925
rs7529925
4 1 199038079 intron variant C/T snv 0.77 0.700 1.000 1 2018 2018
dbSNP: rs781255974
rs781255974
1 1 199025568 intron variant AAA/-;A;AA;AAAA;AAAAA delins 0.700 1.000 1 2016 2016