RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
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: rs386833849
rs386833849 		0.925 0.240 8 144513713 splice acceptor variant C/A;G;T snv
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue 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: 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: rs552960344
rs552960344 		1.000 0.080 8 144514026 stop gained G/A snv
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs752729755
rs752729755 		0.925 0.160 8 144513109 frameshift variant AT/- del 2.8E-05
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs760363252
rs760363252 		0.925 0.160 8 144514441 splice donor variant C/T snv 4.1E-06
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs770709355
rs770709355 		1.000 0.080 8 144514447 stop gained G/A snv 4.1E-06
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs773325186
rs773325186 		1.000 0.080 8 144517182 frameshift variant CT/- delins 7.0E-06
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs775439596
rs775439596 		1.000 0.080 8 144517086 frameshift variant C/- delins
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs780542343
rs780542343 		1.000 0.080 8 144514260 frameshift variant AAAAGCAACTGGAGGCAGCTGTGCGGCTGGAGGGAGGC/- delins 1.6E-05
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs786200887
rs786200887 		1.000 0.120 8 144514490 frameshift variant AGGCCGC/- delins
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs786200890
rs786200890 		1.000 0.120 8 144514062 inframe deletion CTGTGA/- del
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs878854644
rs878854644 		1.000 0.080 8 144514251 stop gained C/A snv
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs878854645
rs878854645 		1.000 0.080 8 144513300 frameshift variant -/TT delins
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1286406860
rs1286406860 		8 144513128 missense variant A/G snv 4.9E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs557142414
rs557142414 		8 144515395 missense variant G/A snv 1.6E-04 4.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2004 2004