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: rs3211938
rs3211938
3 0.882 0.200 7 80671133 stop gained T/G snv 6.2E-03 2.6E-02 0.020 1.000 2 2008 2012
dbSNP: rs146885545
rs146885545
1 1.000 0.080 7 80666447 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs3765187
rs3765187
3 0.925 0.160 7 80656687 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs376632451
rs376632451
1 1.000 0.080 7 80674123 synonymous variant A/C snv 4.8E-05 2.8E-05 0.010 < 0.001 1 2014 2014