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: rs143718918
rs143718918
1 19 1051007 missense variant G/A;T snv 1.1E-03 0.700 1.000 3 2015 2018
dbSNP: rs201060968
rs201060968
1 19 1054256 stop gained G/A snv 6.3E-04 3.8E-04 0.700 0