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: rs730882005
rs730882005
20 0.701 0.400 17 7674250 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 1 2016 2016