Gene: MED13L ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555240361
rs1555240361
MED13L
A 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1555240376
rs1555240376
MED13L
T 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1555243099
rs1555243099
MED13L
T 0.700 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1555244216
rs1555244216
MED13L
C 0.700 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1555247469
rs1555247469
MED13L
C 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1555247853
rs1555247853
MED13L
TGTTCGAG 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1555248020
rs1555248020
MED13L
C 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1555240361
rs1555240361
MED13L
A 0.700 CausalMutation CLINVAR Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. 28588821

2017
dbSNP: rs1555240376
rs1555240376
MED13L
T 0.700 CausalMutation CLINVAR Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. 28588821

2017
dbSNP: rs1555243099
rs1555243099
MED13L
T 0.700 GeneticVariation CLINVAR Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. 28588821

2017
dbSNP: rs1555244216
rs1555244216
MED13L
C 0.700 GeneticVariation CLINVAR Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. 28588821

2017
dbSNP: rs1555247469
rs1555247469
MED13L
C 0.700 CausalMutation CLINVAR Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. 28588821

2017
dbSNP: rs1555247853
rs1555247853
MED13L
TGTTCGAG 0.700 CausalMutation CLINVAR Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. 28588821

2017
dbSNP: rs1555248020
rs1555248020
MED13L
C 0.700 CausalMutation CLINVAR Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. 28588821

2017
dbSNP: rs1555240361
rs1555240361
MED13L
A 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1555240376
rs1555240376
MED13L
T 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1555243099
rs1555243099
MED13L
T 0.700 GeneticVariation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1555244216
rs1555244216
MED13L
C 0.700 GeneticVariation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1555247469
rs1555247469
MED13L
C 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1555247853
rs1555247853
MED13L
TGTTCGAG 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1555248020
rs1555248020
MED13L
C 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1555240361
rs1555240361
MED13L
A 0.700 CausalMutation CLINVAR Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 23403903

2013
dbSNP: rs1555240376
rs1555240376
MED13L
T 0.700 CausalMutation CLINVAR Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 23403903

2013
dbSNP: rs1555243099
rs1555243099
MED13L
T 0.700 GeneticVariation CLINVAR Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 23403903

2013
dbSNP: rs1555244216
rs1555244216
MED13L
C 0.700 GeneticVariation CLINVAR Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 23403903

2013