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: rs2188380
rs2188380
6 0.851 0.200 12 110948323 intron variant T/C snv 4.7E-03 0.700 1.000 1 2017 2017