DisGeNET - a database of gene-disease associations

Activated Protein C Resistance, C0600433

Variant: rs118203906 ×

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:

rs118203906

rs118203906

F5

0.010

GeneticVariation

BEFREE

Factor V Cambridge: a new mutation (Arg306-->Thr) associated with resistance to activated protein C.

1998