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.
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
Loss of ability to walk in early childhood
CUI: C1835993
Disease: Loss of ability to walk in early childhood
1 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Muscle fiber hypertrophy
CUI: C0333759
Disease: Muscle fiber hypertrophy
1 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
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
Serum creatinine low
CUI: C0428282
Disease: Serum creatinine low
2 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Type 2 muscle fiber atrophy
CUI: C1864580
Disease: Type 2 muscle fiber atrophy
2 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
Fatty replacement of skeletal muscle
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
4 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
Toe-walking gait
CUI: C0427144
Disease: Toe-walking gait
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
Hyperextensibility of the finger joints
CUI: C1844577
Disease: Hyperextensibility of the finger joints
5 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
Poor eye contact
CUI: C1445953
Disease: Poor eye contact
6 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
Gowers sign
CUI: C0234182
Disease: Gowers sign
8 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Loss of ability to walk
CUI: C1849097
Disease: Loss of ability to walk
11 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
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
14 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Progressive muscle weakness
CUI: C0240421
Disease: Progressive muscle weakness
15 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
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 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