MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Movement Disorders ×
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: rs1555243099
rs1555243099 		1.000 12 115982526 missense variant A/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 16 1971 2018
dbSNP: rs1555247853
rs1555247853 		1.000 12 116008553 frameshift variant CCC/TGTTCGAG delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 16 1971 2018