DisGeNET - a database of gene-disease associations

SAR1B, secretion associated Ras related GTPase 1B, 51128

N. diseases: 44; N. variants: 6

Disease: Chylomicron retention disease ×

Variant: rs137853125 ×

Source: ALL

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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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs137853125

1.000

0.120

134608488

stop gained

C/A

snv

2.0E-05

CUI:	C0795956
Disease:	Chylomicron retention disease

Chylomicron retention disease

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases

0.700