DisGeNET - a database of gene-disease associations

rs121913482, FGFR3

N. diseases: 35

Source: CLINVAR ×

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Narrow thorax

CUI:	C0426790
Disease:	Narrow thorax

18

0.630

0.680

4

1801837

missense variant

C/T

snv

0.700

NEVUS, EPIDERMAL (disorder)

CUI:	C0334082
Disease:	NEVUS, EPIDERMAL (disorder)

17

0.630

0.680

4

1801837

missense variant

C/T

snv

0.840

1.000

2006

2011

Seborrheic keratosis

CUI:	C0022603
Disease:	Seborrheic keratosis

5

0.630

0.680

4

1801837

missense variant

C/T

snv

0.800

1.000

2005

2005

Short ribs

CUI:	C0426817
Disease:	Short ribs

27

0.630

0.680

4

1801837

missense variant

C/T

snv

0.700

Short stature

CUI:	C0349588
Disease:	Short stature

292

0.630

0.680

4

1801837

missense variant

C/T

snv

0.700

Skeletal dysplasia

CUI:	C0410528
Disease:	Skeletal dysplasia

58

0.630

0.680

4

1801837

missense variant

C/T

snv

0.710

1.000

2003

2003

SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS

CUI:	C1851152
Disease:	SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS

1

0.630

0.680

4

1801837

missense variant

C/T

snv

0.700

Small for gestational age (disorder)

CUI:	C0235991
Disease:	Small for gestational age (disorder)

34

0.630

0.680

4

1801837

missense variant

C/T

snv

0.700

Thanatophoric dysplasia, type 2

CUI:	C1300257
Disease:	Thanatophoric dysplasia, type 2

14

0.630

0.680

4

1801837

missense variant

C/T

snv

0.700

THANATOPHORIC DYSPLASIA, TYPE I (disorder)

CUI:	C1868678
Disease:	THANATOPHORIC DYSPLASIA, TYPE I (disorder)

12

0.630

0.680

4

1801837

missense variant

C/T

snv

0.830

0.889

1995

2011