DisGeNET - a database of gene-disease associations

Source: CURATED

Variant: rs397508097 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs397508097

rs397508097

KCNQ1

0.807

0.120

11

2768917

stop gained

C/T

snv

2.8E-05

1.4E-05

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.710

1.000

2012

2012

dbSNP:

rs397508097

rs397508097

KCNQ1

0.807

0.120

11

2768917

stop gained

C/T

snv

2.8E-05

1.4E-05

CUI:	C0023976
Disease:	Long QT Syndrome

Long QT Syndrome

0.700

1.000

2001

2014

dbSNP:

rs397508097

rs397508097

KCNQ1

0.807

0.120

11

2768917

stop gained

C/T

snv

2.8E-05

1.4E-05

CUI:	C1865019
Disease:	SHORT QT SYNDROME 2 (disorder)

SHORT QT SYNDROME 2 (disorder)

0.700

dbSNP:

rs397508097

rs397508097

KCNQ1

0.807

0.120

11

2768917

stop gained

C/T

snv

2.8E-05

1.4E-05

CUI:	C4551509
Disease:	Jervell And Lange-Nielsen Syndrome 1

Jervell And Lange-Nielsen Syndrome 1

0.700

dbSNP:

rs397508097

rs397508097

KCNQ1

0.807

0.120

11

2768917

stop gained

C/T

snv

2.8E-05

1.4E-05

CUI:	C0004903
Disease:	Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann Syndrome

0.700

dbSNP:

rs397508097

rs397508097

KCNQ1

0.807

0.120

11

2768917

stop gained

C/T

snv

2.8E-05

1.4E-05

CUI:	C1837014
Disease:	Atrial Fibrillation, Familial, 3

Atrial Fibrillation, Familial, 3

0.700