Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.710 GeneticVariation CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.710 GeneticVariation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030

2009
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.710 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

2003
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.710 GeneticVariation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.710 GeneticVariation CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312

2008
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.710 GeneticVariation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356

2010
dbSNP: rs932485786
rs932485786
ARX
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs913477149
rs913477149
RFT1
CUI: C0036572
Disease: Seizures
Seizures 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs907041830
rs907041830
EIF2B5
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs886041874
rs886041874
PHGDH
CUI: C0036572
Disease: Seizures
Seizures 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs886041300
rs886041300
KCNH1
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs886041116
rs886041116
ADNP
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041091
rs886041091
NTRK2
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs879255368
rs879255368
ATP1A3
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878855331
rs878855331
TPP1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853325
rs878853325
PPT1
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853324
rs878853324
PPT1
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853323
rs878853323
PPT1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853322
rs878853322
PPT1
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853169
rs878853169
NBEA
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR NBEA: Developmental disease gene with early generalized epilepsy phenotypes. 30269351

2018
dbSNP: rs878853164
rs878853164
KMT5B
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687

2017
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288

2016
dbSNP: rs869312826
rs869312826
GNB1
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs869312825
rs869312825
GNB1
CUI: C0036572
Disease: Seizures
Seizures 		C 0.700 GeneticVariation CLINVAR