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: rs267607727
rs267607727
3 0.925 0.160 3 37001049 splice donor variant G/A;T snv 0.700 1.000 20 1996 2012