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: rs786205134
rs786205134
3 0.925 0.160 11 111840653 splice donor variant A/T snv 0.700 1.000 1 2016 2016