Disease: Cartilage-hair hypoplasia ×
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: rs199476103
rs199476103 		0.851 0.200 9 35657948 non coding transcript exon variant T/C snv 8.7E-04; 2.3E-05 1.5E-03
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2002 2007