rs886040968, SLC12A2

N. diseases: 3
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
455 1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins 0.700 0
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
3 1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins 0.700 0
Orthostatic intolerance
CUI: C1535893
Disease: Orthostatic intolerance
2 1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins 0.700 0