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: 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: 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: 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: rs1554898257
rs1554898257 		1.000 0.120 8 144513324 frameshift variant ACAGCCCGCACATCTGGCCGGT/- 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: rs1554899720
rs1554899720 		1.000 0.080 8 144514229 stop gained C/T snv
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554899728
rs1554899728 		1.000 0.080 8 144514233 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: rs1554902528
rs1554902528 		1.000 0.080 8 144516194 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: rs1554904685
rs1554904685 		1.000 0.080 8 144517427 frameshift variant GGGAGCG/- delins
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554904773
rs1554904773 		1.000 0.080 8 144517483 frameshift variant CA/- del
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1564802464
rs1564802464 		1.000 0.080 8 144515233 frameshift variant G/- del
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1564804342
rs1564804342 		1.000 0.080 8 144515850 frameshift variant CC/G delins
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1564807584
rs1564807584 		1.000 0.080 8 144516444 frameshift variant -/A ins
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1564808132
rs1564808132 		1.000 0.080 8 144516545 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: rs34134064
rs34134064 		1.000 0.080 8 144515855 frameshift variant AC/- delins 4.0E-05 2.1E-05
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: 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: 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: rs386833845
rs386833845 		0.827 0.240 8 144514983 frameshift variant A/- del 2.4E-04 3.3E-04
CUI: C2698314
Disease: B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 		0.700 0
dbSNP: rs386833845
rs386833845 		0.827 0.240 8 144514983 frameshift variant A/- del 2.4E-04 3.3E-04
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs386833845
rs386833845 		0.827 0.240 8 144514983 frameshift variant A/- del 2.4E-04 3.3E-04
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: rs386833845
rs386833845 		0.827 0.240 8 144514983 frameshift variant A/- del 2.4E-04 3.3E-04
CUI: C1266165
Disease: High grade surface osteosarcoma
High grade surface osteosarcoma 		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: 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: 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
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