AGK, acylglycerol kinase, 55750

N. diseases: 60; N. variants: 15
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: rs766413410
rs766413410 		0.925 0.080 7 141615468 splice region variant C/A;G;T snv 1.2E-05; 2.8E-05; 2.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2012 2017
dbSNP: rs777096695
rs777096695 		1.000 0.080 7 141611288 splice donor variant G/A;T snv 4.1E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2012 2017