rs1560165127, NKX3-2

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.
Abnormality of the skeletal system
CUI: C4021790
Disease: Abnormality of the skeletal system
18 0.925 0.080 4 13542487 frameshift variant TG/- del 0.700 1.000 1 2019 2019
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
CUI: C2750066
Disease: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
4 0.925 0.080 4 13542487 frameshift variant TG/- del 0.700 1.000 1 2019 2019