DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs180177035 ×

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:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

0.810

1.000

2006

2018

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1968

2013

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

1.000

1968

2013

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C0007194
Disease:	Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy

0.700

1.000

2006

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

1.000

2006

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C0020534
Disease:	Orbital separation excessive

Orbital separation excessive

0.700

1.000

2006

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C1857534
Disease:	Postnatal onset growth deficiency

Postnatal onset growth deficiency

0.700

1.000

2006

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C3714756
Disease:	Intellectual Disability

Intellectual Disability

0.700

1.000

2006

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C1836542
Disease:	Depressed nasal bridge

Depressed nasal bridge

0.700

1.000

2006

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C0344482
Disease:	Hypoplasia of corpus callosum

Hypoplasia of corpus callosum

0.700

1.000

2006

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C0431478
Disease:	Posteriorly rotated ear

Posteriorly rotated ear

0.700

1.000

2006

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C0424605
Disease:	Developmental delay (disorder)

Developmental delay (disorder)

0.700

1.000

2006

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

0.700

1.000

2006

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C1837770
Disease:	Sparse hair

Sparse hair

0.700

1.000

2006

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C1837260
Disease:	Prominent forehead

Prominent forehead

0.700

1.000

2006

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C1956257
Disease:	Pulmonary Stenosis

Pulmonary Stenosis

0.700

1.000

2006

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C1842364
Disease:	Central hypotonia

Central hypotonia

0.700

1.000

2006

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C0423110
Disease:	Downward slant of palpebral fissure

Downward slant of palpebral fissure

0.700

1.000

2006

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C1858091
Disease:	Long fingers

Long fingers

0.700

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C0423224
Disease:	Sunken eyes

Sunken eyes

0.700

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C0574974
Disease:	Finger joint hypermobility

Finger joint hypermobility

0.700

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C0027962
Disease:	Melanocytic nevus

Melanocytic nevus

0.700

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C3150613
Disease:	Long toe

Long toe

0.700

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C1843300
Disease:	Sparse eyelashes

Sparse eyelashes

0.700

dbSNP:

rs180177035

BRAF

0.752

0.280

140801502

missense variant

T/C

snv

CUI:	C0158731
Disease:	Congenital pectus carinatum

Congenital pectus carinatum

0.700