COL6A1, collagen type VI alpha 1 chain, 1291

N. diseases: 164; N. variants: 45
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: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0266050
Disease: Failure of exfoliation of primary tooth
Failure of exfoliation of primary tooth 		0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C4477013
Disease: Impaired oropharyngeal swallow response
Impaired oropharyngeal swallow response 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C1834124
Disease: Shield chest
Shield chest 		0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C1837835
Disease: Bilateral talipes equinovarus
Bilateral talipes equinovarus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C1837142
Disease: Poor suck
Poor suck 		0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1556425474
rs1556425474 		1.000 0.120 21 45989120 inframe deletion AGCCGGAGA/- delins
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs759918870
rs759918870 		1.000 0.120 21 46002696 splice donor variant ATAGGTGCGCATGGGGCCACCCGGGCAGTCCCAGATCTGC/- delins 7.0E-06
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2009 2010
dbSNP: rs1556423728
rs1556423728 		1.000 0.120 21 45982682 frameshift variant C/- delins
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797044457
rs797044457 		1.000 0.160 21 45989135 frameshift variant C/- delins
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs201093313
rs201093313 		1.000 0.120 21 45989100 missense variant C/G;T snv 4.0E-06; 2.4E-05
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 5 1996 2010
dbSNP: rs148766287
rs148766287 		21 45984508 intron variant C/G;T snv 1.0E-02; 3.1E-04
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs121912937
rs121912937 		1.000 0.160 21 46001981 stop gained C/G;T snv 2.5E-05
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs13051496
rs13051496 		21 46003595 missense variant C/T snv 0.16 0.15
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1556425596
rs1556425596 		0.752 0.240 21 45989967 intron variant C/T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs137964147
rs137964147 		1.000 0.160 21 45982738 missense variant C/T snv 5.5E-04 5.7E-04
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0