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: 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: 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: 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: 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: rs1554902811
rs1554902811
1.000 8 144516327 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 5 2006 2015
dbSNP: rs1554902811
rs1554902811
1.000 8 144516327 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 5 2006 2015
dbSNP: rs746636748
rs746636748
1.000 0.080 8 144516070 frameshift variant CT/- del 7.7E-05 1.3E-04
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 5 2003 2017
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: rs2721173
rs2721173
8 144519045 intron variant C/T snv 0.43
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 3 2017 2019
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: 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: 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: 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: 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: 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: 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