DisGeNET - a database of gene-disease associations

FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder), C3469521

Variant: rs1247378731 ×

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:

rs1247378731

FANCA

0.700

GeneticVariation

CLINVAR

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

15643609

2005

dbSNP:

rs1247378731

FANCA

0.700

CausalMutation

CLINVAR

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

15643609

2005

dbSNP:

rs1247378731

FANCA

0.700

GeneticVariation

CLINVAR

A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

16084127

2005