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: rs1556425835
rs1556425835 		1.000 0.120 21 45990771 splice acceptor variant A/- del
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: rs751040647
rs751040647 		1.000 0.120 21 45999190 missense variant A/C snv 1.1E-04 1.5E-04
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 2010 2010
dbSNP: rs121912936
rs121912936 		1.000 0.120 21 45984403 missense variant A/G snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 7 1996 2017
dbSNP: rs1556425717
rs1556425717 		1.000 0.120 21 45990376 splice acceptor variant A/G 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 2 2009 2010
dbSNP: rs1569518138
rs1569518138 		1.000 0.160 21 45989713 intron variant A/G snv
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: rs762867111
rs762867111 		1.000 0.120 21 45987076 splice region variant A/G snv 1.2E-05 5.6E-05
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: rs797045477
rs797045477 		21 45990771 splice acceptor variant A/G snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C1398312
Disease: Narrow palate
Narrow palate 		0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C3149494
Disease: KELOID FORMATION
KELOID FORMATION 		0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		Musculoskeletal Diseases; Wounds and Injuries 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0008370
Disease: Cholestasis
Cholestasis 		Digestive System Diseases 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0234146
Disease: Absent reflex
Absent reflex 		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: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C1840069
Disease: Sandal gap
Sandal gap 		0.700 0
dbSNP: rs1569518070
rs1569518070 		0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0