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: rs146550489
rs146550489
1 1.000 19 4817821 missense variant G/A snv 3.1E-04 6.2E-04 0.700 1.000 1 2011 2011
dbSNP: rs1555730283
rs1555730283
1 1.000 19 4817629 missense variant G/A snv 0.700 0
dbSNP: rs387907307
rs387907307
1 1.000 19 4817957 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.700 0