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: rs637868
rs637868
3 1.000 0.120 1 119714487 splice region variant T/C snv 0.56 0.700 1.000 1 2017 2017