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: rs138228187
rs138228187
3 0.925 0.120 11 126292650 missense variant C/T snv 4.0E-05 1.4E-05 0.010 1.000 1 2019 2019