rs140059558, MMP13

N. diseases: 1
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.
Metaphyseal chondrodysplasia Spahr type
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
3 1.000 0.080 11 102954174 missense variant A/C;G snv 6.0E-05; 4.0E-06 0.800 1.000 2 2014 2015