DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Alzheimer disease, familial, type 3 ×

Gene: PSEN1 ×

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:

rs63750155

PSEN1

1.000

0.080

73186904

missense variant

T/C

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

1.000

1995

2018

dbSNP:

rs63750227

PSEN1

1.000

0.080

73217221

missense variant

G/A

snv

7.0E-06

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

1.000

1995

2018

dbSNP:

rs63750592

PSEN1

1.000

0.080

73170813

missense variant

G/A

snv

1.8E-04

2.9E-04

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

1.000

1995

2018

dbSNP:

rs63749911

PSEN1

1.000

0.080

73186901

missense variant

T/C

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

1.000

1995

2018

dbSNP:

rs63749967

PSEN1

1.000

0.080

73170953

missense variant

G/C

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

1.000

1995

2018

dbSNP:

rs63749970

PSEN1

1.000

0.080

73192780

missense variant

A/T

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

1.000

1995

2018

dbSNP:

rs63750249

PSEN1

1.000

0.080

73219200

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

1.000

1995

2018

dbSNP:

rs63750284

PSEN1

1.000

0.080

73198082

missense variant

C/G

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

1.000

1995

2018

dbSNP:

rs63750321

PSEN1

1.000

0.080

73171024

missense variant

T/G

snv

4.0E-06

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

1.000

1995

2018

dbSNP:

rs63750323

PSEN1

1.000

0.080

73217129

missense variant

G/C;T

snv

4.0E-06

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

1.000

1995

2018

dbSNP:

rs63750543

PSEN1

1.000

0.080

73198048

missense variant

T/C

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

1.000

1995

2018

dbSNP:

rs63750550

PSEN1

1.000

0.080

73173576

missense variant

C/G;T

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

1.000

1995

2018

dbSNP:

rs63751229

PSEN1

1.000

0.080

73198060

missense variant

C/G;T

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.800

1.000

2010

2014

dbSNP:

rs63750761

PSEN1

1.000

0.080

73192751

missense variant

T/C;G

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63750799

PSEN1

1.000

0.080

73192787

missense variant

C/T

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63750831

PSEN1

1.000

0.080

73170989

missense variant

G/A

snv

8.0E-06

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63750858

PSEN1

1.000

0.080

73192804

missense variant

T/A;C

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63750861

PSEN1

1.000

0.080

73192732

missense variant

A/C;T

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63750883

PSEN1

1.000

0.080

73217165

missense variant

G/T

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63750941

PSEN1

1.000

0.080

73211907

missense variant

C/A

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63750964

PSEN1

1.000

0.080

73198042

missense variant

G/C;T

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63751102

PSEN1

1.000

0.080

73198049

missense variant

G/T

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63751130

PSEN1

1.000

0.080

73192798

missense variant

C/G

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63751139

PSEN1

1.000

0.080

73198115

missense variant

C/T

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63751144

PSEN1

1.000

0.080

73186892

missense variant

C/A

snv

CUI:	C1843013
Disease:	Alzheimer disease, familial, type 3

Alzheimer disease, familial, type 3

0.800