rs1556425596, COL6A1

N. diseases: 37
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
0.700 CausalMutation CLINVAR Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 28424332 2017
Difficulty walking up stairs
CUI: C0239067
Disease: Difficulty walking up stairs
0.700 CausalMutation CLINVAR
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 CausalMutation CLINVAR
Fatty replacement of skeletal muscle
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
0.700 CausalMutation CLINVAR
Gowers sign
CUI: C0234182
Disease: Gowers sign
0.700 CausalMutation CLINVAR
Ankle contracture
CUI: C1837407
Disease: Ankle contracture
0.700 CausalMutation CLINVAR
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
0.700 CausalMutation CLINVAR
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
0.700 CausalMutation CLINVAR
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
0.700 CausalMutation CLINVAR
Myopathy
CUI: C0026848
Disease: Myopathy
0.700 CausalMutation CLINVAR
Type 2 muscle fiber atrophy
CUI: C1864580
Disease: Type 2 muscle fiber atrophy
0.700 CausalMutation CLINVAR
Loss of ability to walk in early childhood
CUI: C1835993
Disease: Loss of ability to walk in early childhood
0.700 CausalMutation CLINVAR
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
0.700 CausalMutation CLINVAR
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
0.700 CausalMutation CLINVAR
Progressive muscle weakness
CUI: C0240421
Disease: Progressive muscle weakness
0.700 CausalMutation CLINVAR
Generalized amyotrophy
CUI: C1389113
Disease: Generalized amyotrophy
0.700 CausalMutation CLINVAR
Absent reflex
CUI: C0234146
Disease: Absent reflex
0.700 CausalMutation CLINVAR
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
0.700 CausalMutation CLINVAR
Flexion contracture of finger
CUI: C1857304
Disease: Flexion contracture of finger
0.700 CausalMutation CLINVAR
Flexion contracture of hip
CUI: C0409354
Disease: Flexion contracture of hip
0.700 CausalMutation CLINVAR
Loss of ability to walk
CUI: C1849097
Disease: Loss of ability to walk
0.700 CausalMutation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
0.700 CausalMutation CLINVAR
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
0.700 CausalMutation CLINVAR