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: rs104894387
rs104894387
EDNRB ; EDNRB-AS1
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 0 1994 2017
dbSNP: rs104894388
rs104894388
EDNRB ; EDNRB-AS1
1.000 0.080 13 77903543 missense variant G/C snv
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.800 1.000 0 1995 2002
dbSNP: rs104894387
rs104894387
EDNRB ; EDNRB-AS1
0.882 0.080 13 77901181 missense variant C/A snv 2.8E-05
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.700 0
dbSNP: rs104894389
rs104894389
EDNRB ; EDNRB-AS1
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: rs104894390
rs104894390
EDNRB ; EDNRB-AS1
1.000 0.080 13 77903200 stop gained G/A;T snv 1.2E-05
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.700 0
dbSNP: rs104894391
rs104894391
EDNRB ; EDNRB-AS1
0.925 0.080 13 77903356 stop gained G/A;T snv 4.0E-06
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.700 0
dbSNP: rs104894391
rs104894391
EDNRB ; EDNRB-AS1
0.925 0.080 13 77903356 stop gained G/A;T snv 4.0E-06
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome 		0.700 0
dbSNP: rs1458799604
rs1458799604
EDNRB ; EDNRB-AS1
1.000 0.080 13 77903570 frameshift variant C/- del 4.0E-06
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.700 0
dbSNP: rs1555290659
rs1555290659
EDNRB ; EDNRB-AS1
1.000 0.080 13 77903541 missense variant A/G snv
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.700 0
dbSNP: rs1566304640
rs1566304640
EDNRB ; EDNRB-AS1
0.827 0.280 13 77900593 missense variant G/A snv
CUI: C0345240
Disease: Total intestinal aganglionosis
Total intestinal aganglionosis 		0.700 0
dbSNP: rs1566304640
rs1566304640
EDNRB ; EDNRB-AS1
0.827 0.280 13 77900593 missense variant G/A snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs1566304640
rs1566304640
EDNRB ; EDNRB-AS1
0.827 0.280 13 77900593 missense variant G/A snv
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.700 0
dbSNP: rs1566304640
rs1566304640
EDNRB ; EDNRB-AS1
0.827 0.280 13 77900593 missense variant G/A snv
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.700 0
dbSNP: rs1566304640
rs1566304640
EDNRB ; EDNRB-AS1
0.827 0.280 13 77900593 missense variant G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1566304640
rs1566304640
EDNRB ; EDNRB-AS1
0.827 0.280 13 77900593 missense variant G/A snv
CUI: C0267373
Disease: Intestinal hemorrhage NOS
Intestinal hemorrhage NOS 		0.700 0
dbSNP: rs1566304640
rs1566304640
EDNRB ; EDNRB-AS1
0.827 0.280 13 77900593 missense variant G/A snv
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.700 0
dbSNP: rs1566304640
rs1566304640
EDNRB ; EDNRB-AS1
0.827 0.280 13 77900593 missense variant G/A snv
CUI: C4023346
Disease: Aganglionosis of the small intestine
Aganglionosis of the small intestine 		0.700 0
dbSNP: rs1801710
rs1801710
EDNRB
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: rs267606780
rs267606780
EDNRB
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: rs768126403
rs768126403
EDNRB
1.000 0.080 13 77918517 stop gained G/A;T snv
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		0.700 0
dbSNP: rs768126403
rs768126403
EDNRB
1.000 0.080 13 77918517 stop gained G/A;T snv
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.700 0
dbSNP: rs768126403
rs768126403
EDNRB
1.000 0.080 13 77918517 stop gained G/A;T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs768126403
rs768126403
EDNRB
1.000 0.080 13 77918517 stop gained G/A;T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs769735757
rs769735757
EDNRB ; EDNRB-AS1
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
dbSNP: rs781214034
rs781214034
EDNRB ; EDNRB-AS1
0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05
CUI: C4023346
Disease: Aganglionosis of the small intestine
Aganglionosis of the small intestine 		0.700 0