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: rs758468472
rs758468472
8 0.776 0.160 17 67718094 splice region variant G/T snv 0.700 1.000 1 2018 2018