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: rs143498218
rs143498218
F2
2 0.925 0.080 11 46728732 missense variant G/A;C snv 2.4E-05; 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs757240974
rs757240974
F2
4 0.851 0.080 11 46728060 missense variant C/T snv 4.1E-06 0.010 1.000 1 1996 1996