rs1057518911, COL2A1

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.
Disproportionate short-limb short stature
CUI: C1849937
Disease: Disproportionate short-limb short stature
5 12 47976531 missense variant C/G snv 0.700 0
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 12 47976531 missense variant C/G snv 0.700 0