DisGeNET - a database of gene-disease associations

Complement Component 7 Deficiency, C1864694

Variant: rs121964920 ×

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:

rs121964920

0.800

GeneticVariation

UNIPROT

Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

9856499

1998

dbSNP:

rs121964920

0.800

GeneticVariation

UNIPROT

Molecular bases of C7 deficiency: three different defects.

9218625

1997

dbSNP:

rs121964920

0.800

GeneticVariation

UNIPROT

Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

8871666

1996

dbSNP:

rs121964920

0.800

CausalMutation

CLINVAR