EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
Disease: AURICULOCONDYLAR SYNDROME 3 ×
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: rs587777231
rs587777231 		1.000 6 12293978 missense variant A/G snv
CUI: C3810332
Disease: AURICULOCONDYLAR SYNDROME 3
AURICULOCONDYLAR SYNDROME 3 		0.800 1.000 1 2013 2013
dbSNP: rs587777232
rs587777232 		1.000 6 12292506 missense variant C/A snv
CUI: C3810332
Disease: AURICULOCONDYLAR SYNDROME 3
AURICULOCONDYLAR SYNDROME 3 		0.800 1.000 1 2013 2013