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: rs12485900
rs12485900
1 1.000 0.040 3 192905990 intron variant C/A;T snv 0.700 1.000 1 2019 2019