rs1289257741, GAA

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.
Achondrogenesis type 2
CUI: C0220685
Disease: Achondrogenesis type 2
14 0.925 0.080 17 80118690 frameshift variant AGGGA/- del 4.0E-06 0.010 1.000 1 1992 1992
Hypochondrogenesis
CUI: C0542428
Disease: Hypochondrogenesis
5 0.925 0.080 17 80118690 frameshift variant AGGGA/- del 4.0E-06 0.010 1.000 1 1992 1992