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: rs80359541
rs80359541
6 0.882 0.200 13 32340183 frameshift variant C/- del 8.0E-06 0.700 1.000 10 1998 2011
dbSNP: rs81002885
rs81002885
6 0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06 0.700 0