Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507525
rs397507525
PTPN11
T 0.700 CausalMutation CLINVAR Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 22465605

2012
dbSNP: rs397507525
rs397507525
PTPN11
T 0.700 CausalMutation CLINVAR Health and quality of life in adults with Noonan syndrome. 22494877

2012