CRMP1, collapsin response mediator protein 1, 1400

N. diseases: 148; N. variants: 42
Disease: Majewski 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: rs121908425
rs121908425 		0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs794726665
rs794726665 		0.925 0.120 4 5793722 splice region variant G/A;T snv 6.5E-06; 6.5E-06
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0