DisGeNET - a database of gene-disease associations

Tooth Agenesis, Familial, C3489529

Variant: rs121913129 ×

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:

rs121913129

rs121913129

MSX1

0.800

GeneticVariation

UNIPROT

The role of MSX1 in human tooth agenesis.

2002

dbSNP:

rs121913129

rs121913129

MSX1

0.800

GeneticVariation

UNIPROT

A human MSX1 homeodomain missense mutation causes selective tooth agenesis.

1996

dbSNP:

rs121913129

rs121913129

MSX1

C

0.800

CausalMutation

CLINVAR