rs1565256477, MMP13

N. diseases: 4
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.
Disproportionate short stature
CUI: C0878659
Disease: Disproportionate short stature
6 0.925 0.120 11 102955402 missense variant A/G snv 0.700 0
Genu varum
CUI: C0544755
Disease: Genu varum
6 0.925 0.120 11 102955402 missense variant A/G snv 0.700 0
Rickets
CUI: C0035579
Disease: Rickets
16 0.925 0.120 11 102955402 missense variant A/G snv 0.700 0
Spondyloepimetaphyseal Dysplasia, Missouri Type
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
5 0.925 0.120 11 102955402 missense variant A/G snv 0.700 0