DisGeNET - a database of gene-disease associations

Fanconi Anemia, C0015625

Variant: rs104886457 ×

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:

rs104886457

FANCC ; AOPEP

0.700

CausalMutation

CLINVAR

IVS4+4A>T, del322G, and R548X, in FA patients.

28425259

2017

dbSNP:

rs104886457

FANCC ; AOPEP

0.700

CausalMutation

CLINVAR

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

26681312

2016

dbSNP:

rs104886457

FANCC ; AOPEP

0.700

CausalMutation

CLINVAR

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

24584348

2014

dbSNP:

rs104886457

FANCC ; AOPEP

0.700

CausalMutation

CLINVAR

Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.

9207444

1997

dbSNP:

rs104886457

FANCC ; AOPEP

0.700

CausalMutation

CLINVAR

Novel mutations and polymorphisms in the Fanconi anemia group C gene.

8844212

1996

dbSNP:

rs104886457

FANCC ; AOPEP

0.700

CausalMutation

CLINVAR

Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant.

8882868

1996

dbSNP:

rs104886457

FANCC ; AOPEP

0.700

CausalMutation

CLINVAR

FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.

8103176

1993