Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918464
rs121918464
PTPN11
A 0.870 CausalMutation CLINVAR

dbSNP: rs121918453
rs121918453
PTPN11
T 0.800 CausalMutation CLINVAR

dbSNP: rs121918454
rs121918454
PTPN11
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918465
rs121918465
PTPN11
T 0.800 CausalMutation CLINVAR

dbSNP: rs121918465
rs121918465
PTPN11
C 0.800 CausalMutation CLINVAR

dbSNP: rs397507511
rs397507511
PTPN11
A 0.800 GeneticVariation CLINVAR

dbSNP: rs121918462
rs121918462
PTPN11
T 0.730 CausalMutation CLINVAR

dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918456
rs121918456
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918457
rs121918457
PTPN11
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918466
rs121918466
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs397507505
rs397507505
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs397507506
rs397507506
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs397507514
rs397507514
PTPN11
T 0.700 CausalMutation CLINVAR

dbSNP: rs397507531
rs397507531
PTPN11
C 0.700 CausalMutation CLINVAR

dbSNP: rs397507547
rs397507547
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs397507520
rs397507520
PTPN11
C 0.710 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs397507520
rs397507520
PTPN11
T 0.710 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918460
rs121918460
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918461
rs121918461
PTPN11
G 0.800 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002
dbSNP: rs121918458
rs121918458
PTPN11
A 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. 12325025

2002
dbSNP: rs121918460
rs121918460
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. 12325025

2002