DisGeNET - a database of gene-disease associations

Aniridia, C0003076

Variant: rs121907916 ×

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:

rs121907916

PAX6

0.710

GeneticVariation

BEFREE

In addition, a known variant (c.649C>T; p.Arg217*) in PAX6 segregated in a family with aniridia.

27463523

2016

dbSNP:

rs121907916

PAX6

0.710

GeneticVariation

BEFREE

In addition, a known variant (c.649C>T; p.Arg217*) in PAX6 segregated in a family with aniridia.

27463523

2016

dbSNP:

rs121907916

PAX6

0.710

CausalMutation

CLINVAR