ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159945
rs724159945
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4015537
Disease:
THROMBOCYTOPENIA 5
T 0.800 CausalMutation CLINVAR
dbSNP: rs724159945
rs724159945
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4015537
Disease:
THROMBOCYTOPENIA 5
0.800 GeneticVariation UNIPROT
dbSNP: rs724159946
rs724159946
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4015537
Disease:
THROMBOCYTOPENIA 5
A 0.800 CausalMutation CLINVAR
dbSNP: rs724159946
rs724159946
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4015537
Disease:
THROMBOCYTOPENIA 5
0.800 GeneticVariation UNIPROT
dbSNP: rs724159947
rs724159947
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4015537
Disease:
THROMBOCYTOPENIA 5
0.800 GeneticVariation UNIPROT
dbSNP: rs724159947
rs724159947
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4015537
Disease:
THROMBOCYTOPENIA 5
T 0.800 CausalMutation CLINVAR
dbSNP: rs1555144911
rs1555144911
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4015537
Disease:
THROMBOCYTOPENIA 5
C 0.700 CausalMutation CLINVAR
dbSNP: rs786205226
rs786205226
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4015537
Disease:
THROMBOCYTOPENIA 5
G 0.700 CausalMutation CLINVAR