Source: CLINVAR ×
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: rs104894094
rs104894094
6 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.800 1.000 0 1999 2016
dbSNP: rs104894097
rs104894097
7 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.750 1.000 0 1995 2015
dbSNP: rs121913388
rs121913388
2 0.925 0.040 9 21971121 stop gained G/A;C snv 4.4E-06 0.700 1.000 2 2011 2014
dbSNP: rs121913386
rs121913386
6 0.807 0.120 9 21971018 missense variant G/A;T snv 0.700 1.000 1 2014 2014