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: rs80359636
rs80359636
7 0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 0.700 1.000 6 2005 2013
dbSNP: rs587779349
rs587779349
8 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014
dbSNP: rs81002885
rs81002885
6 0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06 0.700 0