DisGeNET - a database of gene-disease associations

Source: ALL

Disease: ZAP70 deficiency ×

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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:

rs104893674

rs104893674

ZAP70

0.925

0.120

2

97737828

missense variant

C/A

snv

CUI:	C2931299
Disease:	ZAP70 deficiency

ZAP70 deficiency

0.700

1.000

1994

2009

dbSNP:

rs137853201

rs137853201

ZAP70

0.925

0.120

2

97737577

missense variant

G/A

snv

4.0E-06

CUI:	C2931299
Disease:	ZAP70 deficiency

ZAP70 deficiency

0.700

1.000

1994

2009

dbSNP:

rs113994172

rs113994172

ZAP70

1.000

0.120

2

97724275

missense variant

C/A

snv

CUI:	C2931299
Disease:	ZAP70 deficiency

ZAP70 deficiency

0.700

dbSNP:

rs113994173

rs113994173

ZAP70

1.000

0.120

2

97733464

non coding transcript exon variant

G/A

snv

CUI:	C2931299
Disease:	ZAP70 deficiency

ZAP70 deficiency

0.700

dbSNP:

rs113994174

rs113994174

ZAP70

1.000

0.120

2

97737576

missense variant

C/T

snv

8.0E-06

1.4E-05

CUI:	C2931299
Disease:	ZAP70 deficiency

ZAP70 deficiency

0.700

dbSNP:

rs113994175

rs113994175

ZAP70

1.000

0.120

2

97738085

missense variant

A/T

snv

CUI:	C2931299
Disease:	ZAP70 deficiency

ZAP70 deficiency

0.700

dbSNP:

rs1254428002

rs1254428002

ZAP70

1.000

0.120

2

97734640

missense variant

T/G

snv

7.0E-06

CUI:	C2931299
Disease:	ZAP70 deficiency

ZAP70 deficiency

0.700

dbSNP:

rs1559328006

rs1559328006

ZAP70

1.000

0.120

2

97735413

frameshift variant

-/T

delins

CUI:	C2931299
Disease:	ZAP70 deficiency

ZAP70 deficiency

0.700