rs398123640, COL6A1

N. diseases: 4
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 1.000 0.120 21 45989093 missense variant G/A;C snv 0.700 1.000 2 2005 2017
Electromyogram abnormal
CUI: C0476403
Disease: Electromyogram abnormal
12 1.000 0.120 21 45989093 missense variant G/A;C snv 0.700 0
Limb-girdle muscle weakness
CUI: C1858127
Disease: Limb-girdle muscle weakness
3 1.000 0.120 21 45989093 missense variant G/A;C snv 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 1.000 0.120 21 45989093 missense variant G/A;C snv 0.700 0