Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142698837
rs142698837
TG
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554032789
rs1554032789
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 CausalMutation CLINVAR

dbSNP: rs180177035
rs180177035
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
C 0.700 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006

dbSNP: rs180177035
rs180177035
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
C 0.700 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006

dbSNP: rs267607048
rs267607048
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
G 0.700 GeneticVariation CLINVAR Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. 22528146

2012

dbSNP: rs267607048
rs267607048
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
G 0.700 GeneticVariation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605

2009

dbSNP: rs28934906
rs28934906
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 GeneticVariation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356

2010

dbSNP: rs28934906
rs28934906
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030

2009

dbSNP: rs28934906
rs28934906
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 GeneticVariation CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312

2008

dbSNP: rs28934906
rs28934906
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 GeneticVariation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007

dbSNP: rs28934906
rs28934906
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

2003

dbSNP: rs28934906
rs28934906
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 GeneticVariation CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834

2000

dbSNP: rs80338796
rs80338796
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007

dbSNP: rs80338796
rs80338796
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007