MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Large nose ×
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: rs1555247672
rs1555247672 		0.827 0.200 12 116007542 stop gained G/A snv
CUI: C0426415
Disease: Large nose
Large nose 		0.700 0