rs606231410, COL11A2

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.
Deafness, Autosomal Recessive 53
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
4 0.925 0.120 6 33189443 missense variant C/A;T snv 4.1E-06 0.800 0
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
66 0.925 0.120 6 33189443 missense variant C/A;T snv 4.1E-06 0.700 1.000 1 2015 2015