Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116

2009
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Noonan syndrome and related disorders: genetics and pathogenesis. 16124853

2005
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918467
rs121918467
PTPN11
T 0.700 CausalMutation CLINVAR

dbSNP: rs397507514
rs397507514
PTPN11
C 0.700 CausalMutation CLINVAR

dbSNP: rs397507539
rs397507539
PTPN11
T 0.700 CausalMutation CLINVAR

dbSNP: rs397507547
rs397507547
PTPN11
G 0.700 CausalMutation CLINVAR