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: rs2304130
rs2304130
5 1.000 0.080 19 19678719 splice region variant A/G snv 0.10 0.12 0.700 1.000 1 2016 2016