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: rs12547243
rs12547243
1 1.000 0.120 8 130909710 splice region variant A/G snv 0.64 0.58 0.700 1.000 1 2018 2018