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: rs766413410
rs766413410
AGK
4 0.925 0.080 7 141615468 splice region variant C/A;G;T snv 1.2E-05; 2.8E-05; 2.8E-05 0.700 1.000 6 2012 2017
dbSNP: rs777096695
rs777096695
AGK
3 1.000 0.080 7 141611288 splice donor variant G/A;T snv 4.1E-06 0.700 1.000 6 2012 2017