DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Alzheimer disease, familial, type 3 ×

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:

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:

rs63751106

PSEN1

0.827

0.080

73173643

missense variant

T/A;C

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:

rs63751164

PSEN1

1.000

0.080

73211874

missense variant

C/T

snv

8.0E-06

7.0E-06

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

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63751174

PSEN1

1.000

0.080

73211886

missense variant

G/A;C

snv

4.0E-05; 1.2E-05

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

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63751210

PSEN1

0.882

0.080

73186878

missense variant

C/T

snv

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

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63751254

PSEN1

0.851

0.160

73217210

missense variant

A/G

snv

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

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63751292

PSEN1

1.000

0.080

73173688

missense variant

A/G

snv

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

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63751309

PSEN1

0.882

0.080

73192733

missense variant

T/C

snv

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

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63751316

PSEN1

1.000

0.080

73219139

missense variant

G/T

snv

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

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63751420

PSEN1

0.925

0.080

73198040

missense variant

C/T

snv

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

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63751441

PSEN1

0.882

0.080

73173684

missense variant

C/G;T

snv

5.2E-05

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

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63751484

PSEN1

0.925

0.080

73186867

missense variant

G/C

snv

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

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs906454643

PSEN1

0.882

0.080

73217219

missense variant

T/C

snv

4.0E-06

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

Alzheimer disease, familial, type 3

0.700

dbSNP:

rs63749824

PSEN1

0.776

0.120

73170945

missense variant

C/G;T

snv

4.0E-06; 1.2E-05

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

Alzheimer disease, familial, type 3

0.800

1.000

2010

2014

dbSNP:

rs63749836

PSEN1

0.827

0.160

73192786

missense variant

G/A

snv

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

Alzheimer disease, familial, type 3

0.800

1.000

2010

2014

dbSNP:

rs63749885

PSEN1

0.882

0.080

73186859

missense variant

C/T

snv

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

Alzheimer disease, familial, type 3

0.800

1.000

2010

2014

dbSNP:

rs63750900

PSEN1

0.763

0.160

73198067

missense variant

G/A

snv

4.0E-06

7.0E-06

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

Alzheimer disease, familial, type 3

0.800

1.000

1996

2017

dbSNP:

rs63751037

PSEN1

0.790

0.080

73173642

missense variant

A/G

snv

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

Alzheimer disease, familial, type 3

0.800

1.000

2010

2014

dbSNP:

rs63751141

PSEN1

0.882

0.080

73170984

missense variant

G/C

snv

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

Alzheimer disease, familial, type 3

0.800

1.000

2010

2014

dbSNP:

rs63751163

PSEN1

0.807

0.120

73192844

missense variant

T/C

snv

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

Alzheimer disease, familial, type 3

0.800

1.000

2010

2014

dbSNP:

rs63751223

PSEN1

0.807

0.160

73219161

missense variant

G/C

snv

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

Alzheimer disease, familial, type 3

0.800

1.000

2010

2014

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:

rs63751235

PSEN1

0.807

0.120

73198117

missense variant

C/G

snv

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

Alzheimer disease, familial, type 3

0.800

1.000

2010

2014