DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs786204849 ×

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:

rs786204849

rs786204849

FIBP

0.882

0.200

11

65885181

stop gained

G/A

snv

CUI:	C0266617
Disease:	Congenital anomaly of face

Congenital anomaly of face

0.700

dbSNP:

rs786204849

rs786204849

FIBP

0.882

0.200

11

65885181

stop gained

G/A

snv

CUI:	C0009363
Disease:	Congenital ocular coloboma (disorder)

Congenital ocular coloboma (disorder)

0.700

dbSNP:

rs786204849

rs786204849

FIBP

0.882

0.200

11

65885181

stop gained

G/A

snv

CUI:	C1849265
Disease:	Overgrowth

Overgrowth

0.700

dbSNP:

rs786204849

rs786204849

FIBP

0.882

0.200

11

65885181

stop gained

G/A

snv

CUI:	C0751265
Disease:	Learning Disabilities

Learning Disabilities

0.700

dbSNP:

rs786204849

rs786204849

FIBP

0.882

0.200

11

65885181

stop gained

G/A

snv

CUI:	C0426870
Disease:	Large hand

Large hand

0.700

dbSNP:

rs786204849

rs786204849

FIBP

0.882

0.200

11

65885181

stop gained

G/A

snv

CUI:	C4310715
Disease:	THAUVIN-ROBINET-FAIVRE SYNDROME

THAUVIN-ROBINET-FAIVRE SYNDROME

0.700

dbSNP:

rs786204849

rs786204849

FIBP

0.882

0.200

11

65885181

stop gained

G/A

snv

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700