DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs878853250 ×

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:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C0376480
Disease:	Gingival Overgrowth

Gingival Overgrowth

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C1740801
Disease:	Exaggerated startle response

Exaggerated startle response

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C1866231
Disease:	Full cheeks

Full cheeks

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C1834055
Disease:	Underdeveloped nasal alae

Underdeveloped nasal alae

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C1836829
Disease:	Developmental stagnation at onset of seizures

Developmental stagnation at onset of seizures

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C0700292
Disease:	Hypoxemia

Hypoxemia

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C1849683
Disease:	No social interaction

No social interaction

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C1836830
Disease:	Developmental regression

Developmental regression

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C0026837
Disease:	Muscle Rigidity

Muscle Rigidity

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C0234376
Disease:	Action Tremor

Action Tremor

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C0240479
Disease:	Neck muscle weakness

Neck muscle weakness

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C0151889
Disease:	Hyperreflexia

Hyperreflexia

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C0543888
Disease:	Epileptic encephalopathy

Epileptic encephalopathy

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C4023342
Disease:	Gastrostomy tube feeding in infancy

Gastrostomy tube feeding in infancy

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C4082299
Disease:	Bulbar palsy

Bulbar palsy

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C1849367
Disease:	Nasal bridge wide

Nasal bridge wide

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C1867873
Disease:	Failure to thrive in infancy

Failure to thrive in infancy

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C4692845
Disease:	BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO

BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C4317146
Disease:	Acid reflux

Acid reflux

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C0011168
Disease:	Deglutition Disorders

Deglutition Disorders

0.700

dbSNP:

rs878853250

SCN8A

0.752

0.360

51699663

stop gained

T/A;C

snv

CUI:	C1854882
Disease:	Absent speech

Absent speech

0.700