Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139497601
rs139497601
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1247059195
rs1247059195
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
CUI: C3809092
Disease:
ADAMS-OLIVER SYNDROME 4 		T 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
dbSNP: rs369583084
rs369583084
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
CUI: C3809092
Disease:
ADAMS-OLIVER SYNDROME 4 		A 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
dbSNP: rs1559604548
rs1559604548
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
CUI: C3809092
Disease:
ADAMS-OLIVER SYNDROME 4 		G 0.700 GeneticVariation CLINVAR Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. 23860037 2014
dbSNP: rs1559604548
rs1559604548
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
CUI: C3809092
Disease:
ADAMS-OLIVER SYNDROME 4 		G 0.700 GeneticVariation CLINVAR Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. 23522784 2013
dbSNP: rs185181819
rs185181819
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
CUI: C3809092
Disease:
ADAMS-OLIVER SYNDROME 4 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587776993
rs587776993
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
CUI: C3809092
Disease:
ADAMS-OLIVER SYNDROME 4 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587776994
rs587776994
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
CUI: C3809092
Disease:
ADAMS-OLIVER SYNDROME 4 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587776994
rs587776994
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
CUI: C0265268
Disease:
Adams Oliver syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs587776995
rs587776995
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
CUI: C3809092
Disease:
ADAMS-OLIVER SYNDROME 4 		T 0.700 CausalMutation CLINVAR
dbSNP: rs771160630
rs771160630
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
CUI: C3809092
Disease:
ADAMS-OLIVER SYNDROME 4 		T 0.700 CausalMutation CLINVAR