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: 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: 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: rs1554896308
rs1554896308 		1.000 0.120 8 144512010 frameshift variant -/TGCTGCGCTCCTCATCCTGC ins
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: 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: 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: 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: rs1554896691
rs1554896691 		1.000 0.080 8 144512232 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: rs771538008
rs771538008 		1.000 0.080 8 144512307 frameshift variant CT/- del 4.0E-05 3.5E-05
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2009 2016
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: 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: rs137853232
rs137853232 		1.000 0.080 8 144512319 missense variant G/A snv 3.6E-05 7.0E-06
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 4 2005 2015
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: 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: rs1554897134
rs1554897134 		1.000 0.080 8 144512623 splice donor variant GTGCTTACCTGTGGGCCAGGGCCTGGAGCTGGGCAGGGC/- delins
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs368081792
rs368081792 		1.000 0.080 8 144512658 stop gained G/A snv 8.1E-06 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: 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: rs1054186954
rs1054186954 		1.000 0.080 8 144513012 stop gained G/A;T snv 2.2E-05
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs778141083
rs778141083 		1.000 0.080 8 144513054 frameshift variant AC/- delins 1.0E-05 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 3 2003 2016
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: 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: 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: 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: 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: 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: 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