Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12979860
rs12979860
0.547 0.520 19 39248147 intron variant C/T snv 0.39
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff
Nutritional and Metabolic Diseases 0.100 1.000 20 2010 2017
dbSNP: rs368234815
rs368234815
0.742 0.280 19 39248514 frameshift variant TT/G;T delins
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff
Nutritional and Metabolic Diseases 0.020 1.000 2 2016 2016