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: 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: 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: rs1060501353
rs1060501353 		1.000 0.080 8 144515985 splice donor variant ACCT/- delins
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1060501370
rs1060501370 		1.000 0.080 8 144516314 frameshift variant A/- del
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1060501383
rs1060501383 		1.000 0.080 8 144514983 frameshift variant AGGGGC/GGGGG delins
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 6 2000 2016
dbSNP: rs1060501384
rs1060501384 		1.000 0.080 8 144516104 frameshift variant G/- delins
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1064796290
rs1064796290 		1.000 0.080 8 144516367 frameshift variant C/- del 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: 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: rs117642173
rs117642173 		0.925 0.160 8 144515243 splice acceptor variant C/T snv 3.6E-05 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 4 2000 2017
dbSNP: rs117642173
rs117642173 		0.925 0.160 8 144515243 splice acceptor variant C/T snv 3.6E-05 4.9E-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: rs1220902289
rs1220902289 		1.000 0.080 8 144515819 frameshift variant C/- del 4.0E-06
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: rs1317950691
rs1317950691 		1.000 0.080 8 144516478 stop gained G/A;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 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: rs137853229
rs137853229 		0.851 0.240 8 144513412 stop gained G/A snv 1.2E-04 8.4E-05
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 7 1999 2016
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
dbSNP: rs137853229
rs137853229 		0.851 0.240 8 144513412 stop gained G/A snv 1.2E-04 8.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2006 2015
dbSNP: rs137853229
rs137853229 		0.851 0.240 8 144513412 stop gained G/A snv 1.2E-04 8.4E-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: 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: 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: 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: 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