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: rs61752115
rs61752115
7 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 0.020 1.000 2 1999 2005
dbSNP: rs786205745
rs786205745
6 0.807 0.320 12 2504538 missense variant G/A;C snv 0.730 1.000 4 2004 2015
dbSNP: rs79891110
rs79891110
6 0.807 0.320 12 2504944 stop gained G/A;T snv 0.730 1.000 3 2011 2015
dbSNP: rs374528680
rs374528680
5 0.851 0.240 12 2686216 missense variant G/A;C snv 4.0E-06; 6.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs587782933
rs587782933
5 0.827 0.200 12 2504526 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs794727587
rs794727587
1 1.000 0.200 12 2665600 missense variant C/G snv 0.710 < 0.001 1 2012 2012
dbSNP: rs797044881
rs797044881
1 1.000 0.200 12 2608651 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs80315385
rs80315385
3 0.882 0.200 12 2504932 missense variant G/A snv 0.710 1.000 1 2013 2013
dbSNP: rs730880056
rs730880056
1 1.000 0.200 12 2593261 missense variant G/A;C snv 1.2E-05 0.700 0