NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: Multiple congenital anomalies ×
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: rs201553266
rs201553266 		0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 12 1988 2017
dbSNP: rs755531536
rs755531536 		0.925 0.080 2 151694370 frameshift variant C/- del 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 12 1988 2017