NCOR1, nuclear receptor corepressor 1, 9611

N. diseases: 94; N. variants: 9
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: rs1075901
rs1075901 		17 16040596 non coding transcript exon variant T/C snv 0.60
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2019 2019
dbSNP: rs11078333
rs11078333 		17 16146312 intron variant A/T snv 0.45
CUI: C0202231
Disease: Thyroxine measurement
Thyroxine measurement 		0.700 1.000 1 2018 2018
dbSNP: rs178810
rs178810 		17 16194116 intron variant C/T snv 0.54
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs34351630
rs34351630 		17 16127206 intron variant T/A;C snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2019 2019
dbSNP: rs34351630
rs34351630 		17 16127206 intron variant T/A;C snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs4792721
rs4792721 		17 16103513 intron variant A/C;G;T snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs7218945
rs7218945 		17 16133280 intron variant A/G snv 2.5E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7218945
rs7218945 		17 16133280 intron variant A/G snv 2.5E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7218945
rs7218945 		17 16133280 intron variant A/G snv 2.5E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7218945
rs7218945 		17 16133280 intron variant A/G snv 2.5E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs751569508
rs751569508 		1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.700 0
dbSNP: rs751569508
rs751569508 		1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05
CUI: C0423757
Disease: Thin skin
Thin skin 		0.700 0
dbSNP: rs751569508
rs751569508 		1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05
CUI: C3810428
Disease: Hyperlaxity
Hyperlaxity 		0.700 0
dbSNP: rs751569508
rs751569508 		1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05
CUI: C0086437
Disease: Joint laxity
Joint laxity 		Musculoskeletal Diseases 0.700 0
dbSNP: rs751569508
rs751569508 		1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs71358386
rs71358386 		1.000 0.120 17 16047840 intron variant T/C snv 4.1E-02
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs990933830
rs990933830 		1.000 0.160 17 16058563 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018