Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918457
rs121918457
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs121918459
rs121918459
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
G 0.700 CausalMutation CLINVAR
dbSNP: rs121918460
rs121918460
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
G 0.700 CausalMutation CLINVAR
dbSNP: rs121918462
rs121918462
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs121918466
rs121918466
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
G 0.700 CausalMutation CLINVAR
dbSNP: rs267606989
rs267606989
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs267606990
rs267606990
Entrez Id: 5781;6128
Gene Symbol: PTPN11;RPL6
PTPN11;RPL6
CUI: C0410530
Disease:
Metachondromatosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs376607329
rs376607329
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
A 0.700 CausalMutation CLINVAR
dbSNP: rs387907157
rs387907157
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs387907158
rs387907158
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs397507505
rs397507505
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
G 0.700 CausalMutation CLINVAR
dbSNP: rs397507506
rs397507506
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
G 0.700 CausalMutation CLINVAR
dbSNP: rs397507514
rs397507514
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs397507520
rs397507520
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
C 0.700 CausalMutation CLINVAR
dbSNP: rs397507531
rs397507531
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
C 0.700 CausalMutation CLINVAR
dbSNP: rs397507545
rs397507545
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
C 0.700 CausalMutation CLINVAR
dbSNP: rs397507545
rs397507545
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
A 0.700 CausalMutation CLINVAR
dbSNP: rs397507547
rs397507547
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
G 0.700 CausalMutation CLINVAR
dbSNP: rs398122857
rs398122857
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs398122858
rs398122858
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
AAGAACACAGGGGAGAGCA 0.700 CausalMutation CLINVAR
dbSNP: rs398122859
rs398122859
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
A 0.700 CausalMutation CLINVAR
dbSNP: rs398122860
rs398122860
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs398122861
rs398122861
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
C 0.700 CausalMutation CLINVAR
dbSNP: rs398122862
rs398122862
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0410530
Disease:
Metachondromatosis
T 0.700 CausalMutation CLINVAR