DisGeNET - a database of gene-disease associations

FANCONI ANEMIA, COMPLEMENTATION GROUP S, C4554406

Variant: rs45553935 ×

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:

rs45553935

BRCA1

0.800

GeneticVariation

UNIPROT

Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

29133208

2018

dbSNP:

rs45553935

BRCA1

0.800

GeneticVariation

UNIPROT

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

25472942

2015

dbSNP:

rs45553935

BRCA1

0.800

GeneticVariation

UNIPROT

Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.

23269703

2013

dbSNP:

rs45553935

BRCA1

0.800

CausalMutation

CLINVAR