DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1553281318 ×

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:

rs1553281318

rs1553281318

COQ8A

0.882

0.120

1

226986536

frameshift variant

-/A

delins

CUI:	C0234979
Disease:	Dysdiadochokinesis

Dysdiadochokinesis

0.700

dbSNP:

rs1553281318

rs1553281318

COQ8A

0.882

0.120

1

226986536

frameshift variant

-/A

delins

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.700

dbSNP:

rs1553281318

rs1553281318

COQ8A

0.882

0.120

1

226986536

frameshift variant

-/A

delins

CUI:	C0740279
Disease:	Cerebellar atrophy

Cerebellar atrophy

0.700

dbSNP:

rs1553281318

rs1553281318

COQ8A

0.882

0.120

1

226986536

frameshift variant

-/A

delins

CUI:	C2677589
Disease:	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9

0.700

dbSNP:

rs1553281318

rs1553281318

COQ8A

0.882

0.120

1

226986536

frameshift variant

-/A

delins

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.700

dbSNP:

rs1553281318

rs1553281318

COQ8A

0.882

0.120

1

226986536

frameshift variant

-/A

delins

CUI:	C0234518
Disease:	Slurred speech

Slurred speech

0.700

dbSNP:

rs1553281318

rs1553281318

COQ8A

0.882

0.120

1

226986536

frameshift variant

-/A

delins

CUI:	C0234162
Disease:	Cerebellar Dysmetria

Cerebellar Dysmetria

0.700