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: rs4649295
rs4649295
2 0.925 0.080 1 233280792 intron variant T/C snv 0.60 0.700 1.000 1 2017 2017