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: rs3752462
rs3752462
7 0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53 0.010 1.000 1 2012 2012