MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
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: rs1555239936
rs1555239936 		12 115963489 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 16 1971 2018
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: rs1555240361
rs1555240361 		1.000 12 115966138 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 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: rs1555240376
rs1555240376 		1.000 12 115966189 missense variant G/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 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: rs1555243099
rs1555243099 		1.000 12 115982526 missense variant A/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 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: rs1555244216
rs1555244216 		1.000 12 115987290 splice acceptor variant T/C snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 16 1971 2018
dbSNP: rs1555247469
rs1555247469 		1.000 12 116006413 splice acceptor variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 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: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 16 1971 2018
dbSNP: rs1555248020
rs1555248020 		1.000 12 116009052 stop gained G/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 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
dbSNP: rs1555246154
rs1555246154 		0.925 0.080 12 115997221 missense variant T/C snv
CUI: C4225208
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		0.700 1.000 1 2017 2017
dbSNP: rs1555246952
rs1555246952 		1.000 12 116003068 frameshift variant G/- delins
CUI: C4225208
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		0.700 1.000 1 2017 2017
dbSNP: rs1565995034
rs1565995034 		1.000 0.080 12 115987146 stop gained C/T snv
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1565995146
rs1565995146 		1.000 0.080 12 115987289 splice acceptor variant C/T snv
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1566010195
rs1566010195 		1.000 0.080 12 116012902 splice acceptor variant C/T snv
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs28940309
rs28940309 		1.000 0.080 12 116019846 missense variant T/C snv 4.0E-06
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2003 2003
dbSNP: rs61935843
rs61935843 		1.000 0.040 12 116179952 intron variant C/A;T snv
CUI: C0339682
Disease: Regular astigmatism - corneal
Regular astigmatism - corneal 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1029377279
rs1029377279 		1.000 0.080 12 116022480 stop gained G/A;T snv
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1057518705
rs1057518705 		1.000 12 115982605 splice acceptor variant T/G snv
CUI: C4225208
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		0.700 0