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: rs12812500
rs12812500
CPM
1 1.000 0.080 12 68963451 intron variant C/G snv 0.20 0.010 1.000 1 2019 2019