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: rs387906883
rs387906883
1 1.000 11 46875946 stop gained C/A;G;T snv 1.2E-05; 4.0E-06; 4.0E-06 0.800 1.000 2 2011 2014
dbSNP: rs387906884
rs387906884
2 0.925 0.080 11 46876494 missense variant G/A snv 8.0E-06 0.800 1.000 2 2011 2014
dbSNP: rs1565785959
rs1565785959
3 0.882 0.080 11 46879264 stop gained C/A snv 0.700 0