MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Abnormality of the periventricular white matter ×
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: rs869312875
rs869312875 		0.882 0.160 12 116237653 frameshift variant -/C delins
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0