DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs138008832 ×

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:

rs138008832

rs138008832

PDGFRB

1.000

5

150123142

missense variant

G/A;T

snv

1.1E-04; 1.6E-05

CUI:	C0575090
Disease:	Equilibration disorder

Equilibration disorder

0.700

dbSNP:

rs138008832

rs138008832

PDGFRB

1.000

5

150123142

missense variant

G/A;T

snv

1.1E-04; 1.6E-05

CUI:	C0235162
Disease:	Difficulty sleeping

Difficulty sleeping

0.700

dbSNP:

rs138008832

rs138008832

PDGFRB

1.000

5

150123142

missense variant

G/A;T

snv

1.1E-04; 1.6E-05

CUI:	C0262477
Disease:	Eye problem

Eye problem

0.700

dbSNP:

rs138008832

rs138008832

PDGFRB

1.000

5

150123142

missense variant

G/A;T

snv

1.1E-04; 1.6E-05

CUI:	C1720037
Disease:	Supranuclear gaze palsy

Supranuclear gaze palsy

0.700

dbSNP:

rs138008832

rs138008832

PDGFRB

1.000

5

150123142

missense variant

G/A;T

snv

1.1E-04; 1.6E-05

CUI:	C0008301
Disease:	Choking

Choking

0.700

dbSNP:

rs138008832

rs138008832

PDGFRB

1.000

5

150123142

missense variant

G/A;T

snv

1.1E-04; 1.6E-05

CUI:	C0040822
Disease:	Tremor

Tremor

0.700

dbSNP:

rs138008832

rs138008832

PDGFRB

1.000

5

150123142

missense variant

G/A;T

snv

1.1E-04; 1.6E-05

CUI:	C3554321
Disease:	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4

BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4

0.700

dbSNP:

rs138008832

rs138008832

PDGFRB

1.000

5

150123142

missense variant

G/A;T

snv

1.1E-04; 1.6E-05

CUI:	C0233715
Disease:	Speech impairment

Speech impairment

0.700