DCHS1, dachsous cadherin-related 1, 8642

N. diseases: 100; N. variants: 8
Disease: Skeletal dysplasia ×
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: rs369091875
rs369091875 		0.925 0.240 11 6633485 missense variant C/G;T snv 1.1E-03
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0