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: rs121913145
rs121913145
2 0.925 0.160 19 7184583 missense variant T/C snv 8.0E-06 2.1E-05 0.810 1.000 20 1988 2017