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: rs141992399
rs141992399
5 0.827 0.120 9 136365140 splice donor variant C/G;T snv 3.3E-03; 4.0E-06 0.700 1.000 1 2016 2016