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: rs10180754
rs10180754
1 1.000 0.040 2 181238244 splice region variant G/A snv 0.35 0.700 1.000 1 2019 2019