BUD13, BUD13 homolog, 84811

N. diseases: 25; N. variants: 21
Disease: Hypochondroplasia (disorder) ×
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: rs10790162
rs10790162 		0.882 0.160 11 116768388 intron variant A/G;T snv 0.93
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014