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: rs2109505
rs2109505
6 0.851 0.200 7 87450090 splice region variant T/A snv 0.21 0.22 0.010 1.000 1 2015 2015