EDN3, endothelin 3, 1908

N. diseases: 107; N. variants: 16
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: rs11570255
rs11570255
1.000 20 59300861 missense variant G/A;T snv 3.3E-03; 2.9E-05
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
0.700 0
dbSNP: rs11570351
rs11570351
1.000 20 59324412 missense variant G/A snv 3.9E-04 1.6E-03
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
0.700 0
dbSNP: rs1568823467
rs1568823467
1.000 20 59301614 frameshift variant -/G delins
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
0.700 0