DisGeNET - a database of gene-disease associations

C9 Deficiency, C3151189

Variant: rs121909593 ×

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:

rs121909593

rs121909593

C9

0.800

GeneticVariation

UNIPROT

Heterogeneity in the genetic basis of human complement C9 deficiency.

1998

dbSNP:

rs121909593

rs121909593

C9

C

0.800

CausalMutation

CLINVAR