WASHC5, WASH complex subunit 5, 9897

N. diseases: 129; N. variants: 15
Disease: RITSCHER-SCHINZEL SYNDROME 1 ×
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: rs398123007
rs398123007 		1.000 0.160 8 125032239 splice donor variant A/T snv
CUI: C4551776
Disease: RITSCHER-SCHINZEL SYNDROME 1
RITSCHER-SCHINZEL SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0