Source: CURATED ×
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: rs786205745
rs786205745
1 0.807 0.320 12 2504538 missense variant G/A;C snv 0.730 1.000 1 2004 2015
dbSNP: rs79891110
rs79891110
2 0.807 0.320 12 2504944 stop gained G/A;T snv 0.730 1.000 0 2011 2015
dbSNP: rs794727587
rs794727587
1 1.000 0.200 12 2665600 missense variant C/G snv 0.710 < 0.001 0 2012 2012
dbSNP: rs80315385
rs80315385
1 0.882 0.200 12 2504932 missense variant G/A snv 0.710 1.000 0 2013 2013
dbSNP: rs730880056
rs730880056
1 1.000 0.200 12 2593261 missense variant G/A;C snv 1.2E-05 0.700 0