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: rs869312873
rs869312873
5 0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06 0.700 1.000 1 2016 2016