CRLF1, cytokine receptor like factor 1, 9244

N. diseases: 97; N. variants: 25
Disease: Crisponi 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: rs104894668
rs104894668 		0.925 0.200 19 18594338 missense variant A/C snv
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137853926
rs137853926 		1.000 0.200 19 18598591 stop gained G/A snv 4.0E-06
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137853927
rs137853927 		0.925 0.200 19 18596895 missense variant C/A snv
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137853929
rs137853929 		1.000 0.200 19 18606604 frameshift variant CCGCCGCGCGGATTGGGCGGCGG/- delins 2.2E-05
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137853930
rs137853930 		0.925 0.200 19 18598886 missense variant G/A snv
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137853931
rs137853931 		1.000 0.200 19 18599659 frameshift variant G/- delins
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137853932
rs137853932 		1.000 0.200 19 18599564 splice donor variant C/T snv
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137853933
rs137853933 		0.925 0.200 19 18596711 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs367543004
rs367543004 		1.000 0.200 19 18596782 frameshift variant GTCCACCA/- del
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137853145
rs137853145 		0.925 0.200 19 18596918 stop gained G/A;C;T snv 4.0E-06; 4.0E-06; 4.0E-06
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014