DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs121913378 ×

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:

rs121913378

rs121913378

BRAF

0.776

0.280

7

140753337

missense variant

C/A;G;T

snv

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

1.000

2002

2014

dbSNP:

rs121913378

rs121913378

BRAF

0.776

0.280

7

140753337

missense variant

C/A;G;T

snv

CUI:	C0007131
Disease:	Non-Small Cell Lung Carcinoma

Non-Small Cell Lung Carcinoma

0.700

1.000

2004

2005

dbSNP:

rs121913378

rs121913378

BRAF

0.776

0.280

7

140753337

missense variant

C/A;G;T

snv

CUI:	C1836047
Disease:	Long face

Long face

0.700

dbSNP:

rs121913378

rs121913378

BRAF

0.776

0.280

7

140753337

missense variant

C/A;G;T

snv

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

0.700

dbSNP:

rs121913378

rs121913378

BRAF

0.776

0.280

7

140753337

missense variant

C/A;G;T

snv

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.700

dbSNP:

rs121913378

rs121913378

BRAF

0.776

0.280

7

140753337

missense variant

C/A;G;T

snv

CUI:	C0020534
Disease:	Orbital separation excessive

Orbital separation excessive

0.700