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: rs2955587
rs2955587
1 1.000 0.080 8 8240557 splice region variant A/G snv 0.38 0.700 1.000 1 2017 2017