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.
BROWN-VIALETTO-VAN LAERE SYNDROME 2
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
21 0.882 0.120 8 144360408 missense variant G/A;T snv 4.1E-05 6.3E-05 0.800 1.000 8 2012 2016
Brown-Vialetto-Van Laere syndrome
CUI: C4551777
Disease: Brown-Vialetto-Van Laere syndrome
5 0.882 0.120 8 144360408 missense variant G/A;T snv 4.1E-05 6.3E-05 0.010 1.000 1 2014 2014
Brown-Vialetto-Van Laere Syndrome 1
CUI: C0796274
Disease: Brown-Vialetto-Van Laere Syndrome 1
29 0.882 0.120 8 144360408 missense variant G/A;T snv 4.1E-05 6.3E-05 0.010 1.000 1 2014 2014