SON, SON DNA binding protein, 6651

N. diseases: 154; N. variants: 27
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: rs1555899177
rs1555899177 		1.000 21 33554005 frameshift variant ACTC/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 28 1988 2016
dbSNP: rs1555899379
rs1555899379 		1.000 21 33554726 stop gained CTG/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 28 1988 2016