Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1349967796
rs1349967796
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT

dbSNP: rs1392844787
rs1392844787
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.010 GeneticVariation BEFREE Searches for mutations in these candidate genes detected a novel nonsense mutation (c.416G>A) in exon 1 of MSX1 from a family with oligodontia. 24329876

2014

dbSNP: rs1392844787
rs1392844787
CUI: C4082304
Disease: Oligodontia
Oligodontia
0.010 GeneticVariation BEFREE Searches for mutations in these candidate genes detected a novel nonsense mutation (c.416G>A) in exon 1 of MSX1 from a family with oligodontia. 24329876

2014

dbSNP: rs749914296
rs749914296
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 GeneticVariation BEFREE A new GRN variant of unknown significance (c.620T>C, p.Met207Thr) was found in 1 patient with schizophrenia with TDP-43 pathology. 20937952

2010