DCHS1, dachsous cadherin-related 1, 8642

N. diseases: 100; N. variants: 8
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: rs483352919
rs483352919 		1.000 0.240 11 6625235 missense variant T/A;C snv 4.1E-06
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
VAN MALDERGEM SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2013 2013
dbSNP: rs768737101
rs768737101 		1.000 0.040 11 6625356 missense variant G/A snv 2.4E-05 3.5E-05
CUI: C1843003
Disease: MITRAL VALVE PROLAPSE, MYXOMATOUS 2
MITRAL VALVE PROLAPSE, MYXOMATOUS 2 		Cardiovascular Diseases 0.800 1.000 1 2015 2015
dbSNP: rs10160659
rs10160659 		1.000 0.080 11 6644463 intron variant A/C snv 5.5E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs201457110
rs201457110 		1.000 0.040 11 6624138 missense variant C/T snv 4.2E-04 1.4E-04
CUI: C1843003
Disease: MITRAL VALVE PROLAPSE, MYXOMATOUS 2
MITRAL VALVE PROLAPSE, MYXOMATOUS 2 		Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs148882462
rs148882462 		1.000 0.080 11 6630047 missense variant G/A;C;T snv 4.8E-06; 4.8E-06; 4.8E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs369091875
rs369091875 		0.925 0.240 11 6633485 missense variant C/G;T snv 1.1E-03
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs369091875
rs369091875 		0.925 0.240 11 6633485 missense variant C/G;T snv 1.1E-03
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
VAN MALDERGEM SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs483352917
rs483352917 		1.000 0.240 11 6633009 stop gained C/A snv
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
VAN MALDERGEM SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs483352918
rs483352918 		1.000 0.240 11 6632969 frameshift variant G/- del
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
VAN MALDERGEM SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0