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: rs121913483
rs121913483
22 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.710 1.000 1 2016 2019
dbSNP: rs121913482
rs121913482
35 0.630 0.680 4 1801837 missense variant C/T snv 0.700 1.000 1 2016 2016