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: rs28897756
rs28897756
11 0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 0.700 1.000 41 1997 2017