MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS ×
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: 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: 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
dbSNP: rs1135401765
rs1135401765 		1.000 12 115982386 stop gained G/A 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
dbSNP: rs1135401766
rs1135401766 		1.000 12 116005938 frameshift variant -/A 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 0
dbSNP: rs1135401810
rs1135401810 		1.000 12 115975514 splice donor variant C/T 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
dbSNP: rs147976828
rs147976828 		1.000 12 115991189 frameshift variant G/-;GG 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 0
dbSNP: rs1555241166
rs1555241166 		1.000 12 115970696 stop gained G/A 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
dbSNP: rs1555243059
rs1555243059 		1.000 12 115982406 frameshift variant AT/- 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 0
dbSNP: rs1555243582
rs1555243582 		1.000 12 115984259 frameshift variant A/- 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 0
dbSNP: rs1555244212
rs1555244212 		1.000 12 115987280 frameshift variant GT/- 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 0
dbSNP: rs1555246143
rs1555246143 		1.000 12 115997200 missense variant G/A 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
dbSNP: rs1555247672
rs1555247672 		0.827 0.200 12 116007542 stop gained G/A 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
dbSNP: rs1555247699
rs1555247699 		1.000 12 116007590 stop gained G/A 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
dbSNP: rs1555248025
rs1555248025 		1.000 12 116009071 frameshift variant -/GTTG 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 0
dbSNP: rs1555250044
rs1555250044 		1.000 12 116022564 stop gained CA/AT mnv
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
dbSNP: rs1565981137
rs1565981137 		0.925 0.080 12 115963419 missense variant G/A 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
dbSNP: rs1565982697
rs1565982697 		1.000 12 115966209 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 0
dbSNP: rs1565987758
rs1565987758 		0.925 0.080 12 115975601 frameshift variant G/- del
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
dbSNP: rs869025286
rs869025286 		1.000 12 116008704 frameshift variant CT/- 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 0
dbSNP: rs869025287
rs869025287 		0.925 0.200 12 115969040 frameshift variant GCCAATAT/- 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 0
dbSNP: rs869025288
rs869025288 		1.000 12 116022602 splice acceptor variant C/A 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
dbSNP: rs869025289
rs869025289 		1.000 12 115970711 frameshift variant GA/- 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 0
dbSNP: rs869025291
rs869025291 		1.000 12 116022473 frameshift variant -/A 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 0
dbSNP: rs869312707
rs869312707 		0.925 0.160 12 115963422 missense variant G/A 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