Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516807
rs397516807
PTPN11
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		T 0.700 CausalMutation CLINVAR Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 21533187

2011
dbSNP: rs397516807
rs397516807
PTPN11
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		T 0.700 CausalMutation CLINVAR Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. 20577567

2010