CDK13, cyclin dependent kinase 13, 8621

N. diseases: 141; N. variants: 8
Disease: Muscle hypotonia ×
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: rs1057519632
rs1057519632 		1.000 7 39999467 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 9 2009 2018
dbSNP: rs878853160
rs878853160 		0.882 0.120 7 40046007 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 9 2009 2018
dbSNP: rs1554317002
rs1554317002 		0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0