rs1556425596, COL6A1

N. diseases: 37
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.
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
108 0.752 0.240 21 45989967 intron variant C/T snv 0.700 1.000 1 2017 2017
Abnormality of muscle fibers
CUI: C4021663
Disease: Abnormality of muscle fibers
2 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Absent reflex
CUI: C0234146
Disease: Absent reflex
16 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Ankle contracture
CUI: C1837407
Disease: Ankle contracture
3 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Delayed speech and language development
192 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Difficulty walking up stairs
CUI: C0239067
Disease: Difficulty walking up stairs
7 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Dry skin
CUI: C0151908
Disease: Dry skin
12 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Fatty replacement of skeletal muscle
4 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
14 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Flexion contracture - wrist
CUI: C0409345
Disease: Flexion contracture - wrist
4 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Flexion contracture of finger
CUI: C1857304
Disease: Flexion contracture of finger
4 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Flexion contracture of hip
CUI: C0409354
Disease: Flexion contracture of hip
5 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Generalized amyotrophy
CUI: C1389113
Disease: Generalized amyotrophy
6 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Gowers sign
CUI: C0234182
Disease: Gowers sign
8 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Hyperextensibility of the finger joints
5 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Hyperpigmented nevi and streak
CUI: C3805692
Disease: Hyperpigmented nevi and streak
1 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0