DisGeNET - a database of gene-disease associations

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive, C1837028

Gene: PTPRC ×

Source: ALL

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1553243550

rs1553243550

PTPRC

1

1.000

0.120

1

198735253

splice donor variant

G/A

snv

0.700

1.000

2000

2000

dbSNP:

rs398122383

rs398122383

PTPRC

1

1.000

0.120

1

198718267

stop gained

A/G;T

snv

4.0E-06

0.700