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: 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: rs1050860620
rs1050860620 		1.000 0.080 8 144515987 splice donor variant C/A;G;T snv 4.1E-06
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2003 2003
dbSNP: rs1085307090
rs1085307090 		0.882 0.240 8 144515325 splice donor variant C/A 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 1.000 2 2000 2003
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: rs1085307090
rs1085307090 		0.882 0.240 8 144515325 splice donor variant C/A snv
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2000 2003
dbSNP: rs1389647533
rs1389647533 		1.000 0.080 8 144516248 frameshift variant C/- delins 1.4E-05
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2003 2003
dbSNP: rs1402322681
rs1402322681 		1.000 0.080 8 144512563 splice acceptor variant T/C snv 4.0E-06
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2003 2003
dbSNP: rs1564791894
rs1564791894 		1.000 0.080 8 144512772 splice acceptor variant C/T snv
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2003 2003
dbSNP: rs386833843
rs386833843 		0.925 0.240 8 144515324 splice donor variant A/- del 4.2E-04
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2003 2003
dbSNP: rs752301125
rs752301125 		1.000 0.080 8 144511790 splice acceptor variant C/G;T snv 2.0E-05
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2003 2003
dbSNP: rs760363252
rs760363252 		0.925 0.160 8 144514441 splice donor variant C/T snv 4.1E-06
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2003 2003
dbSNP: rs768749064
rs768749064 		1.000 0.080 8 144513569 splice donor variant A/C;G snv 4.1E-06
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2003 2003
dbSNP: rs786200889
rs786200889 		1.000 0.080 8 144512326 splice acceptor variant T/G snv 7.0E-06
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2003 2003
dbSNP: rs1356876749
rs1356876749 		1.000 0.080 8 144512027 frameshift variant C/- delins 7.0E-06
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2003 2003
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
dbSNP: rs1564804479
rs1564804479 		1.000 0.120 8 144515873 stop gained C/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 1.000 1 2007 2007
dbSNP: rs398124117
rs398124117 		1.000 0.080 8 144513139 splice acceptor variant C/G;T snv 1.0E-04; 5.0E-06
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 2003 2009
dbSNP: rs386833851
rs386833851 		0.925 0.240 8 144513126 stop gained G/A snv 5.4E-05 4.3E-05
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2003 2009
dbSNP: rs386833852
rs386833852 		0.925 0.240 8 144512308 frameshift variant T/- del 4.9E-05
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2009 2009
dbSNP: rs386833844
rs386833844 		0.925 0.240 8 144515236 missense variant G/A snv 2.4E-05 1.4E-05
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 2008 2012
dbSNP: rs752729755
rs752729755 		0.925 0.160 8 144513109 frameshift variant AT/- del 2.8E-05
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 1999 2014
dbSNP: rs137853229
rs137853229 		0.851 0.240 8 144513412 stop gained G/A snv 1.2E-04 8.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 5 2006 2015