MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Dysmorphic features ×
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: rs1555240361
rs1555240361 		1.000 12 115966138 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1971 2018
dbSNP: rs1555240376
rs1555240376 		1.000 12 115966189 missense variant G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1971 2018
dbSNP: rs1555243099
rs1555243099 		1.000 12 115982526 missense variant A/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1971 2018
dbSNP: rs1555244216
rs1555244216 		1.000 12 115987290 splice acceptor variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1971 2018
dbSNP: rs1555247469
rs1555247469 		1.000 12 116006413 splice acceptor variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1971 2018
dbSNP: rs1555247853
rs1555247853 		1.000 12 116008553 frameshift variant CCC/TGTTCGAG delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1971 2018
dbSNP: rs1555248020
rs1555248020 		1.000 12 116009052 stop gained G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1971 2018