rs747900252, COL6A2

N. diseases: 6
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 0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05 0.700 1.000 5 2009 2015
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05 0.700 0
Falls
CUI: C0085639
Disease: Falls
3 0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05 0.700 0
Hip Dislocation, Congenital
CUI: C0019555
Disease: Hip Dislocation, Congenital
3 0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05 0.700 0
Hip flexor weakness
CUI: C3279725
Disease: Hip flexor weakness
1 0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05 0.700 0