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: rs121918258
rs121918258
5 0.851 0.200 6 49457801 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs727504020
rs727504020
4 0.882 0.200 6 49451591 stop gained G/A;C snv 4.0E-05; 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs764173488
rs764173488
3 0.925 0.200 6 49447749 stop gained A/T snv 8.0E-06 0.010 1.000 1 2013 2013