KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
Disease: Congenital torticollis ×
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: rs1131692227
rs1131692227 		0.851 0.160 X 53194576 frameshift variant AGAGC/- delins
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0