MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Overgrowth ×
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: rs1555244216
rs1555244216 		1.000 12 115987290 splice acceptor variant T/C snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 16 1971 2018