CSMD3, CUB and Sushi multiple domains 3, 114788

N. diseases: 18; N. variants: 7
Source: CURATED ×
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: rs10094069
rs10094069 		1.000 0.080 8 113022302 intron variant C/T snv 0.59
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs117648881
rs117648881 		1.000 0.120 8 112569669 intron variant G/A snv 1.6E-02
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs150537045
rs150537045 		1.000 0.120 8 113394871 intron variant G/A snv 1.2E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs34742539
rs34742539 		0.925 0.040 8 112793292 intron variant G/A snv 2.7E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs34742539
rs34742539 		0.925 0.040 8 112793292 intron variant G/A snv 2.7E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs9283946
rs9283946 		0.925 0.040 8 113027451 intron variant C/T snv 0.66
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs9283946
rs9283946 		0.925 0.040 8 113027451 intron variant C/T snv 0.66
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs139968762
rs139968762 		1.000 0.080 8 112254287 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs780986269
rs780986269 		1.000 0.080 8 112287159 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0