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: rs150922932
rs150922932
1 1.000 0.080 19 41094989 missense variant G/A snv 1.2E-05 4.9E-05 0.010 1.000 1 2011 2011
dbSNP: rs72552266
rs72552266
3 0.882 0.200 19 41089049 stop gained C/G;T snv 4.0E-06; 5.8E-03 0.010 1.000 1 2011 2011
dbSNP: rs8192789
rs8192789
3 1.000 0.080 19 41091846 missense variant C/A;T snv 4.0E-06; 3.1E-02 0.010 1.000 1 2011 2011