MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
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: rs1555239936
rs1555239936 		12 115963489 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 16 1971 2018
dbSNP: rs1555247469
rs1555247469 		1.000 12 116006413 splice acceptor variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 16 1971 2018
dbSNP: rs1555248020
rs1555248020 		1.000 12 116009052 stop gained G/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 16 1971 2018