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: rs879253744
rs879253744
2 1.000 10 27935009 splice donor variant C/T snv 4.0E-06 0.700 1.000 1 2013 2013