DisGeNET - a database of gene-disease associations

Fanconi Anemia, C0015625

Variant: rs104886456 ×

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:

rs104886456

FANCC

0.700

CausalMutation

CLINVAR

The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients.

10666230

2000

dbSNP:

rs104886456

FANCC

0.700

CausalMutation

CLINVAR

The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population.

8081385

1994

dbSNP:

rs104886456

FANCC

0.700

CausalMutation

CLINVAR

A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.

8348157

1993