MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Strabismus ×
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: rs1555247805
rs1555247805 		0.925 0.160 12 116008442 frameshift variant A/- del
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0