DisGeNET - a database of gene-disease associations

Fanconi Anemia, C0015625

Variant: rs137852986 ×

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:

rs137852986

BRIP1

0.700

CausalMutation

CLINVAR

Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.

26968956

2016

dbSNP:

rs137852986

BRIP1

0.700

CausalMutation

CLINVAR

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.

16116424

2005

dbSNP:

rs137852986

BRIP1

0.700

CausalMutation

CLINVAR

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

16116423

2005