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.
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 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
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
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 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
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 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
Serum creatinine low
CUI: C0428282
Disease: Serum creatinine low
2 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
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