rs886039905, COL6A2

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.
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.882 0.240 21 46125854 frameshift variant -/T delins 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.882 0.240 21 46125854 frameshift variant -/T delins 0.700 0
Proximal muscle weakness
CUI: C0221629
Disease: Proximal muscle weakness
11 0.882 0.240 21 46125854 frameshift variant -/T delins 0.700 0
Ullrich congenital muscular dystrophy 1
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
34 0.882 0.240 21 46125854 frameshift variant -/T delins 0.700 0