EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
Disease: QUESTION MARK EARS, ISOLATED ×
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: rs587777233
rs587777233 		1.000 6 12292467 missense variant T/A snv
CUI: C2748545
Disease: QUESTION MARK EARS, ISOLATED
QUESTION MARK EARS, ISOLATED 		0.800 1.000 1 2013 2013
dbSNP: rs587777234
rs587777234 		1.000 6 12293956 stop gained T/G snv
CUI: C2748545
Disease: QUESTION MARK EARS, ISOLATED
QUESTION MARK EARS, ISOLATED 		0.700 0