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: rs121908587
rs121908587
6 0.827 0.120 4 54278380 missense variant C/T snv 0.020 1.000 2 2012 2014