rs1555165335, COL2A1

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.
Achondrogenesis type 2
CUI: C0220685
Disease: Achondrogenesis type 2
14 1.000 0.080 12 47978042 inframe deletion CACGGGGCCAGGAGGACC/- delins 0.700 0