rs1569518070, COL6A1

N. diseases: 33
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Absent reflex
CUI: C0234146
Disease: Absent reflex
16 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
108 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Bilateral talipes equinovarus
CUI: C1837835
Disease: Bilateral talipes equinovarus
6 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Cholestasis
CUI: C0008370
Disease: Cholestasis
15 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Decreased muscle mass
CUI: C1837108
Disease: Decreased muscle mass
12 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
EMG: myopathic abnormalities
CUI: C4021726
Disease: EMG: myopathic abnormalities
16 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Failure of exfoliation of primary tooth
CUI: C0266050
Disease: Failure of exfoliation of primary tooth
1 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
14 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Gowers sign
CUI: C0234182
Disease: Gowers sign
8 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Hip Dysplasia
CUI: C1328407
Disease: Hip Dysplasia
16 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Impaired oropharyngeal swallow response
CUI: C4477013
Disease: Impaired oropharyngeal swallow response
1 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
KELOID FORMATION
CUI: C3149494
Disease: KELOID FORMATION
4 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Narrow palate
CUI: C1398312
Disease: Narrow palate
5 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Neurogenic Urinary Bladder
CUI: C0005697
Disease: Neurogenic Urinary Bladder
9 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Prolonged neonatal jaundice
CUI: C1859236
Disease: Prolonged neonatal jaundice
14 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Proximal muscle weakness
CUI: C0221629
Disease: Proximal muscle weakness
11 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0