EDNRA, endothelin receptor type A, 1909

N. diseases: 427; N. variants: 29
Disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA ×
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: rs786205230
rs786205230 		1.000 4 147486067 missense variant A/G;T snv
CUI: C4225349
Disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA 		0.810 1.000 1 2015 2015
dbSNP: rs876657388
rs876657388 		0.925 0.240 4 147539823 missense variant G/A snv
CUI: C4225349
Disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA 		0.800 1.000 1 2015 2015