rs398123643, 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 1.000 0.120 21 45989626 missense variant G/A snv 0.710 1.000 7 2010 2019
Hematuria
CUI: C0018965
Disease: Hematuria
31 1.000 0.120 21 45989626 missense variant G/A snv 0.010 1.000 1 2019 2019