Source: ALL
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: rs1555096248
rs1555096248
BEST1
1 11 61950428 splice donor variant G/T snv 0.700 1.000 1 2013 2013