Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1398859175
rs1398859175
PTPN11
G 0.700 GeneticVariation CLINVAR

dbSNP: rs397507518
rs397507518
PTPN11
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs121918454
rs121918454
PTPN11
G 0.710 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs397507514
rs397507514
PTPN11
T 0.710 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs397507514
rs397507514
PTPN11
C 0.710 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs397507529
rs397507529
PTPN11
G 0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002
dbSNP: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. 12325025

2002
dbSNP: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002
dbSNP: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002
dbSNP: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002
dbSNP: rs121918454
rs121918454
PTPN11
G 0.710 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918455
rs121918455
PTPN11
G 0.710 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918456
rs121918456
PTPN11
G 0.710 CausalMutation CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348

2002