DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1057516264 ×

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:

rs1057516264

rs1057516264

TPP1

0.776

0.280

11

6614968

frameshift variant

C/-;CC

delins

CUI:	C0042798
Disease:	Low Vision

Low Vision

0.700

dbSNP:

rs1057516264

rs1057516264

TPP1

0.776

0.280

11

6614968

frameshift variant

C/-;CC

delins

CUI:	C4021219
Disease:	Multifocal epileptiform discharges

Multifocal epileptiform discharges

0.700

dbSNP:

rs1057516264

rs1057516264

TPP1

0.776

0.280

11

6614968

frameshift variant

C/-;CC

delins

CUI:	C1851400
Disease:	Facial Hypertrichosis

Facial Hypertrichosis

0.700

dbSNP:

rs1057516264

rs1057516264

TPP1

0.776

0.280

11

6614968

frameshift variant

C/-;CC

delins

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

dbSNP:

rs1057516264

rs1057516264

TPP1

0.776

0.280

11

6614968

frameshift variant

C/-;CC

delins

CUI:	C1876161
Disease:	CEROID LIPOFUSCINOSIS, NEURONAL, 2

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.700

dbSNP:

rs1057516264

rs1057516264

TPP1

0.776

0.280

11

6614968

frameshift variant

C/-;CC

delins

CUI:	C1836830
Disease:	Developmental regression

Developmental regression

0.700

dbSNP:

rs1057516264

rs1057516264

TPP1

0.776

0.280

11

6614968

frameshift variant

C/-;CC

delins

CUI:	C0235946
Disease:	Cerebral atrophy

Cerebral atrophy

0.700

dbSNP:

rs1057516264

rs1057516264

TPP1

0.776

0.280

11

6614968

frameshift variant

C/-;CC

delins

CUI:	C1845847
Disease:	Coarse facial features

Coarse facial features

0.700

dbSNP:

rs1057516264

rs1057516264

TPP1

0.776

0.280

11

6614968

frameshift variant

C/-;CC

delins

CUI:	C4025860
Disease:	Hearing abnormality

Hearing abnormality

0.700

dbSNP:

rs1057516264

rs1057516264

TPP1

0.776

0.280

11

6614968

frameshift variant

C/-;CC

delins

CUI:	C1850041
Disease:	Facial hirsutism

Facial hirsutism

0.700

dbSNP:

rs1057516264

rs1057516264

TPP1

0.776

0.280

11

6614968

frameshift variant

C/-;CC

delins

CUI:	C0740279
Disease:	Cerebellar atrophy

Cerebellar atrophy

0.700

dbSNP:

rs1057516264

rs1057516264

TPP1

0.776

0.280

11

6614968

frameshift variant

C/-;CC

delins

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs1057516264

rs1057516264

TPP1

0.776

0.280

11

6614968

frameshift variant

C/-;CC

delins

CUI:	C0026106
Disease:	Mild Mental Retardation

Mild Mental Retardation

0.700