rs121909497, MMP13

N. diseases: 3
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.
Spondyloepimetaphyseal Dysplasia, Missouri Type
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
5 0.925 0.080 11 102955390 missense variant A/G snv 0.800 1.000 1 2005 2005
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.925 0.080 11 102955390 missense variant A/G snv 0.010 1.000 1 2005 2005
Spondyloepimetaphyseal disorder
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
2 0.925 0.080 11 102955390 missense variant A/G snv 0.010 1.000 1 2005 2005