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: rs200107989
rs200107989
3 0.882 0.280 2 227294985 missense variant C/T snv 2.0E-04 3.6E-04 0.010 1.000 1 2012 2012