CTNND2, catenin delta 2, 1501

N. diseases: 117; N. variants: 18
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: rs1554008611
rs1554008611 		5 11236825 splice acceptor variant T/C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 8 2003 2017
dbSNP: rs10059423
rs10059423 		0.925 0.040 5 11600827 intron variant A/C;T snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs10059423
rs10059423 		0.925 0.040 5 11600827 intron variant A/C;T snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs116210778
rs116210778 		5 11197030 intron variant G/A snv 5.2E-04
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11744876
rs11744876 		0.851 0.080 5 11084600 intron variant G/A snv 7.8E-02
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs11744876
rs11744876 		0.851 0.080 5 11084600 intron variant G/A snv 7.8E-02
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs11744876
rs11744876 		0.851 0.080 5 11084600 intron variant G/A snv 7.8E-02
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2014 2014
dbSNP: rs11744876
rs11744876 		0.851 0.080 5 11084600 intron variant G/A snv 7.8E-02
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs16901233
rs16901233 		1.000 0.080 5 11073170 intron variant T/C snv 2.5E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs2727603
rs2727603 		5 11663398 intron variant C/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2907092
rs2907092 		5 11047569 intron variant T/A;G snv
CUI: C0019693
Disease: HIV Infections
HIV Infections 		Infections; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2973488
rs2973488 		5 11043805 intron variant A/T snv 0.19
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs31837
rs31837 		0.925 0.040 5 11397461 intron variant C/A snv 0.13
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs31837
rs31837 		0.925 0.040 5 11397461 intron variant C/A snv 0.13
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs6891903
rs6891903 		1.000 0.040 5 11371193 intron variant A/G snv 6.8E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs6885224
rs6885224 		0.882 0.040 5 11169833 intron variant C/A;T snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.020 1.000 2 2011 2014
dbSNP: rs1012176
rs1012176 		5 11320426 intron variant G/T snv 0.24
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs12716080
rs12716080 		0.882 0.040 5 11166836 intron variant G/T snv 0.39
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12716080
rs12716080 		0.882 0.040 5 11166836 intron variant G/T snv 0.39
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs12716080
rs12716080 		0.882 0.040 5 11166836 intron variant G/T snv 0.39
CUI: C4315867
Disease: Moderate myopia
Moderate myopia 		Eye Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs13155993
rs13155993 		1.000 0.040 5 11108043 intron variant C/T snv 7.0E-02
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs13170756
rs13170756 		1.000 0.040 5 11110237 intron variant C/A;T snv
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1479617
rs1479617 		1.000 0.040 5 11386094 intron variant G/A snv 0.41
CUI: C0154778
Disease: Myopia, Degenerative
Myopia, Degenerative 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs17183619
rs17183619 		1.000 0.040 5 11111141 intron variant T/G snv 7.6E-02
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs6885224
rs6885224 		0.882 0.040 5 11169833 intron variant C/A;T snv
CUI: C4315867
Disease: Moderate myopia
Moderate myopia 		Eye Diseases 0.010 < 0.001 1 2011 2011