DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs397514698 ×

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:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C0038505
Disease:	Sturge-Weber Syndrome

Sturge-Weber Syndrome

0.880

1.000

2013

2019

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C0340803
Disease:	Capillary malformation (disorder)

Capillary malformation (disorder)

0.730

1.000

2016

2019

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C0235752
Disease:	Port-Wine Stain

Port-Wine Stain

0.720

1.000

2014

2017

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C1837098
Disease:	Easy fatigability

Easy fatigability

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C4476886
Disease:	Abnormal vena cava morphology

Abnormal vena cava morphology

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C0023221
Disease:	Leg Length Inequality

Leg Length Inequality

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C1851789
Disease:	Poor wound healing

Poor wound healing

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C0004106
Disease:	Astigmatism

Astigmatism

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C1860236
Disease:	Irregular hyperpigmentation

Irregular hyperpigmentation

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C1837785
Disease:	Prominent superficial veins

Prominent superficial veins

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C1849265
Disease:	Overgrowth

Overgrowth

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C0151526
Disease:	Premature Birth

Premature Birth

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C0162834
Disease:	Hyperpigmentation

Hyperpigmentation

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C0007933
Disease:	Meibomian Cyst

Meibomian Cyst

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C2673776
Disease:	Vascular tortuosity

Vascular tortuosity

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C0241665
Disease:	Abnormal venous morphology

Abnormal venous morphology

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C0151908
Disease:	Dry skin

Dry skin

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C1850049
Disease:	Clinodactyly of the 5th finger

Clinodactyly of the 5th finger

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C4073245
Disease:	Abnormality of neck blood vessel

Abnormality of neck blood vessel

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C0241657
Disease:	Abnormality of the vasculature

Abnormality of the vasculature

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C0030193
Disease:	Pain

Pain

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C0003081
Disease:	Anisometropia

Anisometropia

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C0542514
Disease:	Blue sclera

Blue sclera

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C2937220
Disease:	Congenital abnormality of vein

Congenital abnormality of vein

0.700

dbSNP:

rs397514698

GNAQ

0.667

0.400

77797577

missense variant

C/T

snv

CUI:	C0018916
Disease:	Hemangioma

Hemangioma

0.700