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: rs3200401
rs3200401
11 0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17 0.010 1.000 1 2020 2020