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: rs12482947
rs12482947
5 0.851 0.040 21 42431928 intron variant T/C snv 0.57 0.700 1.000 1 2019 2019