Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894584
rs104894584
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1865018
Disease:
Short QT Syndrome 3
A 0.820 CausalMutation CLINVAR
dbSNP: rs104894575
rs104894575
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
T 0.810 CausalMutation CLINVAR
dbSNP: rs104894585
rs104894585
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
G 0.810 CausalMutation CLINVAR
dbSNP: rs104894579
rs104894579
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
T 0.800 CausalMutation CLINVAR
dbSNP: rs104894581
rs104894581
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
T 0.800 CausalMutation CLINVAR
dbSNP: rs104894582
rs104894582
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs104894583
rs104894583
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
C 0.800 CausalMutation CLINVAR
dbSNP: rs147750704
rs147750704
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C3151431
Disease:
ATRIAL FIBRILLATION, FAMILIAL, 9
A 0.800 CausalMutation CLINVAR
dbSNP: rs147750704
rs147750704
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C3151431
Disease:
ATRIAL FIBRILLATION, FAMILIAL, 9
0.800 GeneticVariation UNIPROT
dbSNP: rs199473387
rs199473387
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
C 0.800 CausalMutation CLINVAR
dbSNP: rs199473387
rs199473387
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
G 0.800 CausalMutation CLINVAR
dbSNP: rs199473650
rs199473650
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
T 0.800 CausalMutation CLINVAR
dbSNP: rs104894580
rs104894580
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C3151431
Disease:
ATRIAL FIBRILLATION, FAMILIAL, 9
T 0.700 CausalMutation CLINVAR
dbSNP: rs1060500053
rs1060500053
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555603974
rs1555603974
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs199473369
rs199473369
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
C 0.700 GeneticVariation CLINVAR
dbSNP: rs199473371
rs199473371
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs199473373
rs199473373
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C0039240
Disease:
Supraventricular tachycardia
T 0.700 CausalMutation CLINVAR
dbSNP: rs199473380
rs199473380
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs199473383
rs199473383
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs864622292
rs864622292
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
TTT 0.700 GeneticVariation CLINVAR
dbSNP: rs104894575
rs104894575
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
0.810 GeneticVariation UNIPROT Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. 11371347 2001
dbSNP: rs104894585
rs104894585
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
0.810 GeneticVariation UNIPROT Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. 11371347 2001
dbSNP: rs104894578
rs104894578
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
0.800 GeneticVariation UNIPROT Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. 11371347 2001
dbSNP: rs104894578
rs104894578
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1563715
Disease:
Andersen Syndrome
T 0.800 CausalMutation CLINVAR Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. 11371347 2001