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: rs61747728
rs61747728
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.090 0.778 9 2002 2018
dbSNP: rs530318579
rs530318579
6 0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs74315342
rs74315342
10 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.010 1.000 1 2007 2007
dbSNP: rs74315344
rs74315344
4 0.851 0.080 1 179575806 missense variant G/A snv 2.8E-03 4.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs748203170
rs748203170
1 1.000 0.080 1 179551346 missense variant G/A snv 8.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs920479356
rs920479356
1 1.000 0.080 1 179575836 missense variant C/G;T snv 0.010 < 0.001 1 2008 2008