rs765795867, COL2A1

N. diseases: 2
Source: CLINVAR ×
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.
Absent vertebral body mineralization
CUI: C1860191
Disease: Absent vertebral body mineralization
1 12 47978098 missense variant C/A;T snv 0.700 0
Short ribs
CUI: C0426817
Disease: Short ribs
27 12 47978098 missense variant C/A;T snv 0.700 0