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: rs16902273
rs16902273
1 1.000 0.040 8 90006279 splice donor variant T/A snv 8.6E-02 8.8E-02 0.700 1.000 1 2011 2011