Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124645
rs398124645
Entrez Id: 6873
Gene Symbol: TAF2
TAF2
CUI: C3810080
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		0.800 GeneticVariation UNIPROT Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2. 24084144 2013
dbSNP: rs398124645
rs398124645
Entrez Id: 6873
Gene Symbol: TAF2
TAF2
CUI: C3810080
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		0.800 GeneticVariation UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
dbSNP: rs398124645
rs398124645
Entrez Id: 6873
Gene Symbol: TAF2
TAF2
CUI: C3810080
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		G 0.800 CausalMutation CLINVAR
dbSNP: rs10092747
rs10092747
Entrez Id: 6873
Gene Symbol: TAF2
TAF2
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs398124655
rs398124655
Entrez Id: 6873
Gene Symbol: TAF2
TAF2
CUI: C3810080
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		0.700 GeneticVariation UNIPROT Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2. 24084144 2013
dbSNP: rs398124656
rs398124656
Entrez Id: 6873
Gene Symbol: TAF2
TAF2
CUI: C3810080
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		0.700 GeneticVariation UNIPROT Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2. 24084144 2013
dbSNP: rs398124655
rs398124655
Entrez Id: 6873
Gene Symbol: TAF2
TAF2
CUI: C3810080
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		0.700 GeneticVariation UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
dbSNP: rs398124656
rs398124656
Entrez Id: 6873
Gene Symbol: TAF2
TAF2
CUI: C3810080
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		0.700 GeneticVariation UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011