Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886040968
rs886040968
SLC12A2
1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs886040968
rs886040968
SLC12A2
1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		0.700 0
dbSNP: rs886040968
rs886040968
SLC12A2
1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins
CUI: C1535893
Disease: Orthostatic intolerance
Orthostatic intolerance 		0.700 0