NKX3-2, NK3 homeobox 2, 579

N. diseases: 31; N. variants: 4
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1560165127
rs1560165127 		0.925 0.080 4 13542487 frameshift variant TG/- del
CUI: C2750066
Disease: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1560165127
rs1560165127 		0.925 0.080 4 13542487 frameshift variant TG/- del
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.700 1.000 1 2019 2019
dbSNP: rs606231352
rs606231352 		1.000 0.080 4 13544078 frameshift variant C/-;CC delins
CUI: C2750066
Disease: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231353
rs606231353 		1.000 0.080 4 13544078 frameshift variant CC/A delins
CUI: C2750066
Disease: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs606231354
rs606231354 		1.000 0.080 4 13544305 frameshift variant GGGCGCC/- delins
CUI: C2750066
Disease: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0