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: rs781959255
rs781959255
HJV
2 0.925 0.080 1 146019321 missense variant C/T snv 8.1E-06 0.010 1.000 1 2011 2011