RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
Disease: Rapadilino 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: rs386833843
rs386833843 		0.925 0.240 8 144515324 splice donor variant A/- del 4.2E-04
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs386833845
rs386833845 		0.827 0.240 8 144514983 frameshift variant A/- del 2.4E-04 3.3E-04
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1085307090
rs1085307090 		0.882 0.240 8 144515325 splice donor variant C/A snv
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 1.000 2 2000 2003
dbSNP: rs386833849
rs386833849 		0.925 0.240 8 144513713 splice acceptor variant C/A;G;T snv
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs137853231
rs137853231 		1.000 0.240 8 144516313 stop gained C/G;T snv 4.1E-06; 4.1E-06; 4.1E-06
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs386833846
rs386833846 		1.000 0.240 8 144514098 frameshift variant CCCG/- del
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs386833854
rs386833854 		1.000 0.240 8 144511458 frameshift variant CG/- del
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs137853229
rs137853229 		0.851 0.240 8 144513412 stop gained G/A snv 1.2E-04 8.4E-05
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs137853230
rs137853230 		1.000 0.240 8 144512033 stop gained G/A snv
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs386833844
rs386833844 		0.925 0.240 8 144515236 missense variant G/A snv 2.4E-05 1.4E-05
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs386833851
rs386833851 		0.925 0.240 8 144513126 stop gained G/A snv 5.4E-05 4.3E-05
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs386833852
rs386833852 		0.925 0.240 8 144512308 frameshift variant T/- del 4.9E-05
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs386833853
rs386833853 		1.000 0.240 8 144512166 stop gained T/A;G snv 4.1E-06
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs386833847
rs386833847 		1.000 0.240 8 144514096 frameshift variant TCCC/- delins
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 0