DisGeNET - a database of gene-disease associations

FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder), C3469521

Variant: rs182657062 ×

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:

rs182657062

FANCA ; ZNF276

0.700

GeneticVariation

CLINVAR

Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.

23973728

2013

dbSNP:

rs182657062

FANCA ; ZNF276

0.700

GeneticVariation

CLINVAR

Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

17924555

2008

dbSNP:

rs182657062

FANCA ; ZNF276

0.700

GeneticVariation

CLINVAR

Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants.

12444097

2002

dbSNP:

rs182657062

FANCA ; ZNF276

0.700

GeneticVariation

CLINVAR

High frequency of large intragenic deletions in the Fanconi anemia group A gene.

10521298

1999