C3, complement C3, 718

N. diseases: 343; N. variants: 49
Source: ALL
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: rs2230201
rs2230201
0.882 0.200 19 6713280 synonymous variant C/G;T snv 0.19
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff
Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015