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: rs6596473
rs6596473
7 0.807 0.120 5 139374887 intron variant G/C;T snv 0.010 < 0.001 1 2019 2019