DisGeNET - a database of gene-disease associations

Hypobetalipoproteinemias, C0020597

Variant: rs143301836 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs143301836

rs143301836

APOB

A

0.700

GeneticVariation

CLINVAR

Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB)--Update 2014.

2015

dbSNP:

rs143301836

rs143301836

APOB

A

0.700

GeneticVariation

CLINVAR

Hypobetalipoproteinemia and abetalipoproteinemia.

2014