ZPR1, ZPR1 zinc finger, 8882

N. diseases: 64; N. variants: 35
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: rs2075290
rs2075290 		0.882 0.160 11 116782580 intron variant C/G;T snv
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
dbSNP: rs964184
rs964184 		0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82
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