DisGeNET - a database of gene-disease associations

Fanconi Anemia, C0015625

Variant: rs121917784 ×

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:

rs121917784

FANCC

0.700

CausalMutation

CLINVAR

Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.

26740942

2015

dbSNP:

rs121917784

FANCC

0.700

CausalMutation

CLINVAR

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

9207444

1997

dbSNP:

rs121917784

FANCC

0.700

CausalMutation

CLINVAR

Mutation analysis of the Fanconi anemia gene FACC.

8128956

1994

dbSNP:

rs121917784

FANCC

0.700

CausalMutation

CLINVAR

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

8103176

1993