EDNRB, endothelin receptor type B, 1910

N. diseases: 300; N. variants: 25
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 ×
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: rs104894387
rs104894387 		0.882 0.080 13 77901181 missense variant C/A snv 2.8E-05
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		0.800 1.000 5 1994 2017
dbSNP: rs104894389
rs104894389 		0.925 0.080 13 77901185 stop gained C/G;T snv 4.0E-06
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1801710
rs1801710 		1.000 13 77918405 missense variant C/T snv 5.1E-03 4.7E-03
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs200363611
rs200363611 		0.925 0.040 13 77900651 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs267606780
rs267606780 		1.000 13 77919573 stop gained T/A snv
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs769735757
rs769735757 		1.000 13 77901132 frameshift variant A/-;AA delins
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		0.700 0