NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
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: rs587784024
rs587784024 		1.000 0.080 5 37049240 missense variant G/A snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 12 2004 2017
dbSNP: rs80358376
rs80358376 		1.000 0.080 5 37049239 missense variant C/G;T snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 12 2004 2017
dbSNP: rs587784036
rs587784036 		1.000 0.080 5 37052471 missense variant G/A snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 10 2004 2017
dbSNP: rs121918265
rs121918265 		1.000 0.080 5 37057211 missense variant A/G snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 9 2004 2017
dbSNP: rs121918268
rs121918268 		1.000 0.080 5 37002734 missense variant C/G snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 9 2004 2017
dbSNP: rs587784000
rs587784000 		0.882 0.120 5 37044480 missense variant G/C;T snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 9 2004 2017
dbSNP: rs587784025
rs587784025 		1.000 0.080 5 37049282 missense variant G/T snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 9 2004 2017
dbSNP: rs587784042
rs587784042 		1.000 0.080 5 36971002 missense variant A/G snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 9 2004 2017
dbSNP: rs142923613
rs142923613 		1.000 0.080 5 36962199 missense variant G/A snv 3.8E-03 3.6E-03
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 9 2004 2017
dbSNP: rs1554015303
rs1554015303 		1.000 0.080 5 36976342 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 2004 2015
dbSNP: rs587784012
rs587784012 		1.000 0.080 5 36955467 splice region variant A/C;G snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2004 2007
dbSNP: rs1554019712
rs1554019712 		1.000 0.080 5 36995805 splice donor variant G/A snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2010 2013
dbSNP: rs1561222738
rs1561222738 		1.000 0.080 5 37057336 splice region variant A/G snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2004 2007
dbSNP: rs398124465
rs398124465 		1.000 0.080 5 36985659 frameshift variant AG/- del
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2004 2019
dbSNP: rs587783968
rs587783968 		1.000 0.080 5 37022036 intron variant A/G snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2016 2016
dbSNP: rs587784020
rs587784020 		1.000 0.080 5 37048558 missense variant T/C snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs1057516034
rs1057516034 		0.925 0.120 5 37052453 stop gained C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2016 2016
dbSNP: rs1057516034
rs1057516034 		0.925 0.120 5 37052453 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2016 2016
dbSNP: rs1057516034
rs1057516034 		0.925 0.120 5 37052453 stop gained C/T snv
CUI: C0019572
Disease: Hirsutism
Hirsutism 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516034
rs1057516034 		0.925 0.120 5 37052453 stop gained C/T snv
CUI: C0431447
Disease: Synophrys
Synophrys 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516034
rs1057516034 		0.925 0.120 5 37052453 stop gained C/T snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11288989
rs11288989 		5 37043527 intron variant AAA/-;A;AA;AAAA;AAAAA delins
CUI: C0005910
Disease: Body Weight
Body Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2017 2017
dbSNP: rs1561083229
rs1561083229 		1.000 0.080 5 36962121 splice acceptor variant A/G snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1561164598
rs1561164598 		1.000 0.080 5 37017071 missense variant T/C snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1561169166
rs1561169166 		1.000 0.080 5 37020458 splice acceptor variant G/C snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2013 2013