DisGeNET - a database of gene-disease associations

Fanconi Anemia, C0015625

Variant: rs753063086 ×

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:

rs753063086

FANCA

0.700

CausalMutation

CLINVAR

Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

19367192

2009

dbSNP:

rs753063086

FANCA

0.700

CausalMutation

CLINVAR

Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.

15523645

2004

dbSNP:

rs753063086

FANCA

0.700

CausalMutation

CLINVAR

Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.

9929978

1999

dbSNP:

rs753063086

FANCA

0.700

CausalMutation

CLINVAR

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.

10094191

1999