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: rs201278114
rs201278114
3 0.925 0.120 11 47352635 missense variant C/A;G snv 4.3E-06; 3.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs397516037
rs397516037
4 0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs397516005
rs397516005
5 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.040 1.000 4 2015 2019
dbSNP: rs387907267
rs387907267
4 0.851 0.120 11 47335120 stop gained G/A snv 1.2E-05 2.8E-05 0.010 1.000 1 2009 2009