WASHC5, WASH complex subunit 5, 9897

N. diseases: 129; N. variants: 15
Disease: 3C syndrome ×
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: rs1462319941
rs1462319941 		0.925 0.200 8 125081668 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1563627853
rs1563627853 		0.925 0.200 8 125067721 splice acceptor variant T/C snv
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs80338867
rs80338867 		0.925 0.200 8 125056817 missense variant C/A snv
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1563633906
rs1563633906 		0.925 0.200 8 125078744 stop gained -/T delins
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs754463353
rs754463353 		0.925 0.200 8 125078767 stop gained G/A snv 8.0E-06
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs765926045
rs765926045 		0.925 0.200 8 125038889 frameshift variant GT/- delins 8.0E-06 7.0E-06
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0