DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1131692231 ×

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:

rs1131692231

rs1131692231

CYFIP2

0.827

0.280

5

157294834

missense variant

C/T

snv

CUI:	C4693925
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65

0.800

1.000

2018

2018

dbSNP:

rs1131692231

rs1131692231

CYFIP2

0.827

0.280

5

157294834

missense variant

C/T

snv

CUI:	C0392525
Disease:	Nephrolithiasis

Nephrolithiasis

0.700

dbSNP:

rs1131692231

rs1131692231

CYFIP2

0.827

0.280

5

157294834

missense variant

C/T

snv

CUI:	C0037317
Disease:	Sleep disturbances

Sleep disturbances

0.700

dbSNP:

rs1131692231

rs1131692231

CYFIP2

0.827

0.280

5

157294834

missense variant

C/T

snv

CUI:	C0271441
Disease:	Chronic otitis media

Chronic otitis media

0.700

dbSNP:

rs1131692231

rs1131692231

CYFIP2

0.827

0.280

5

157294834

missense variant

C/T

snv

CUI:	C0036857
Disease:	Severe intellectual disability

Severe intellectual disability

0.700

dbSNP:

rs1131692231

rs1131692231

CYFIP2

0.827

0.280

5

157294834

missense variant

C/T

snv

CUI:	C1854882
Disease:	Absent speech

Absent speech

0.700

dbSNP:

rs1131692231

rs1131692231

CYFIP2

0.827

0.280

5

157294834

missense variant

C/T

snv

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.700

dbSNP:

rs1131692231

rs1131692231

CYFIP2

0.827

0.280

5

157294834

missense variant

C/T

snv

CUI:	C1853743
Disease:	Muscular hypotonia of the trunk

Muscular hypotonia of the trunk

0.700

dbSNP:

rs1131692231

rs1131692231

CYFIP2

0.827

0.280

5

157294834

missense variant

C/T

snv

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

dbSNP:

rs1131692231

rs1131692231

CYFIP2

0.827

0.280

5

157294834

missense variant

C/T

snv

CUI:	C4023588
Disease:	Abnormality of the gastrointestinal tract

Abnormality of the gastrointestinal tract

0.700

dbSNP:

rs1131692231

rs1131692231

CYFIP2

0.827

0.280

5

157294834

missense variant

C/T

snv

CUI:	C0086437
Disease:	Joint laxity

Joint laxity

0.700

dbSNP:

rs1131692231

rs1131692231

CYFIP2

0.827

0.280

5

157294834

missense variant

C/T

snv

CUI:	C4021790
Disease:	Abnormality of the skeletal system

Abnormality of the skeletal system

0.700

dbSNP:

rs1131692231

rs1131692231

CYFIP2

0.827

0.280

5

157294834

missense variant

C/T

snv

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

0.700