DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1561515242 ×

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:

rs1561515242

rs1561515242

CAMK4

1.000

0.080

5

111482938

splice donor variant

G/A

snv

CUI:	C0427086
Disease:	Involuntary Movements

Involuntary Movements

0.700

dbSNP:

rs1561515242

rs1561515242

CAMK4

1.000

0.080

5

111482938

splice donor variant

G/A

snv

CUI:	C0233514
Disease:	Abnormal behavior

Abnormal behavior

0.700

dbSNP:

rs1561515242

rs1561515242

CAMK4

1.000

0.080

5

111482938

splice donor variant

G/A

snv

CUI:	C0007758
Disease:	Cerebellar Ataxia

Cerebellar Ataxia

0.700

dbSNP:

rs1561515242

rs1561515242

CAMK4

1.000

0.080

5

111482938

splice donor variant

G/A

snv

CUI:	C0013362
Disease:	Dysarthria

Dysarthria

0.700

dbSNP:

rs1561515242

rs1561515242

CAMK4

1.000

0.080

5

111482938

splice donor variant

G/A

snv

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.700

dbSNP:

rs1561515242

rs1561515242

CAMK4

1.000

0.080

5

111482938

splice donor variant

G/A

snv

CUI:	C1843367
Disease:	Poor school performance

Poor school performance

0.700