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: rs786204790
rs786204790
1 1.000 0.120 14 81092608 splice donor variant TG/- delins 1.4E-05 0.700 1.000 1 2013 2013