SLC12A2, solute carrier family 12 member 2, 6558

N. diseases: 128; N. variants: 7
Disease: Cardiomyopathy, Dilated ×
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: rs886040968
rs886040968 		1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0