Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374993554
rs374993554
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
CUI: C4310702
Disease:
ALAZAMI-YUAN SYNDROME 		0.800 GeneticVariation UNIPROT Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
dbSNP: rs374993554
rs374993554
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
CUI: C4310702
Disease:
ALAZAMI-YUAN SYNDROME 		0.800 GeneticVariation UNIPROT Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841 2015
dbSNP: rs374993554
rs374993554
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
CUI: C4310702
Disease:
ALAZAMI-YUAN SYNDROME 		G 0.800 CausalMutation CLINVAR
dbSNP: rs727503778
rs727503778
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
CUI: C4310702
Disease:
ALAZAMI-YUAN SYNDROME 		A 0.800 CausalMutation CLINVAR
dbSNP: rs727503778
rs727503778
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
CUI: C4310702
Disease:
ALAZAMI-YUAN SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs117460458
rs117460458
Entrez Id: 6878;9179
Gene Symbol: TAF6;AP4M1
TAF6;AP4M1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1880949
rs1880949
Entrez Id: 6878;245812
Gene Symbol: TAF6;CNPY4
TAF6;CNPY4
CUI: C0200635
Disease:
Lymphocyte Count measurement 		0.700 GeneticVariation GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
dbSNP: rs374993554
rs374993554
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
CUI: C0557874
Disease:
Global developmental delay 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs374993554
rs374993554
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
CUI: C0424503
Disease:
Dysmorphic facies 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs727503778
rs727503778
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs760907496
rs760907496
Entrez Id: 6878;9179
Gene Symbol: TAF6;AP4M1
TAF6;AP4M1
CUI: C2752008
Disease:
Spastic Paraplegia-50, Autosomal Recessive 		C 0.700 CausalMutation CLINVAR