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: rs1564872328
rs1564872328
1 1.000 0.080 11 9807999 splice donor variant C/T snv 0.700 1.000 3 2003 2014
dbSNP: rs1060499999
rs1060499999
1 1.000 0.080 11 9787633 splice donor variant C/T snv 4.0E-06 0.700 0