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: rs2070715
rs2070715
5 1.000 5 142644691 intron variant T/C;G snv 0.700 1.000 1 2019 2019