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: rs779317615
rs779317615
1 1.000 3 49132490 splice donor variant C/G;T snv 3.2E-05 0.700 1.000 1 2010 2010