Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312

2008
dbSNP: rs28934906
rs28934906
MECP2
0.710 GeneticVariation BEFREE QTc prolongation was associated with p.(Thr158Met) mutation versus the remaining six common mutations (hazard ratio 4.1, 95% confidence interval 1.4-12.0; p=0.01) but not with age, RSSS score, seizures, breathing abnormalities, or SSRIs. 31797351

2019
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356

2010
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

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

2007
dbSNP: rs28934906
rs28934906
MECP2
A 0.710 GeneticVariation CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834

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

2009
dbSNP: rs550423482
rs550423482
PNPO
0.710 GeneticVariation BEFREE Data suggest that certain genotypes (R225H/C and D33V) are more likely to result in seizures that to respond to treatment with pyridoxine. 24645144

2014
dbSNP: rs74315390
rs74315390
KCNQ2
0.710 GeneticVariation BEFREE Adult Kcnq2(A306T/+) and Kcnq3(G311V/+) heterozygous knock-in mice exhibited reduced thresholds to electrically induced seizures compared to wild-type littermate mice. 18483067

2008
dbSNP: rs1009298200
rs1009298200
ALG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516264
rs1057516264
TPP1
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518843
rs1057518843
GALC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518887
rs1057518887
SEPSECS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518921
rs1057518921
MED12
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518932
rs1057518932
EFTUD2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518961
rs1057518961
DYNC1H1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518963
rs1057518963
OPHN1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519465
rs1057519465
HEXA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519466
rs1057519466
HEXA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519560
rs1057519560
MYT1L
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519565
rs1057519565
DEAF1
T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057524157
rs1057524157
DEAF1
T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057524157
rs1057524157
DEAF1
T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
dbSNP: rs1057524820
rs1057524820
SCN8A
A 0.700 GeneticVariation CLINVAR