DisGeNET - a database of gene-disease associations

Hypodontia, C0020608

Variant: rs121908120 ×

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:

rs121908120

WNT10A

0.810

GeneticVariation

BEFREE

Among them, the stop codon p.C107* as well as the biallelic p.F228I variants correlate with the most severe oligodontia phenotypes.

30426266

2019

dbSNP:

rs121908120

WNT10A

0.810

GeneticVariation

GWASCAT

Rare and Common Variants Conferring Risk of Tooth Agenesis.

29364747

2018

dbSNP:

rs121908120

WNT10A

0.810

CausalMutation

CLINVAR