rs398123631, COL6A1

N. diseases: 2
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 0.120 21 45990827 splice donor variant G/A snv 0.700 1.000 5 1999 2013
Sensorimotor neuropathy
CUI: C1112256
Disease: Sensorimotor neuropathy
21 0.925 0.120 21 45990827 splice donor variant G/A snv 0.700 0