Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1294950721
rs1294950721
JAG1
A 0.700 CausalMutation CLINVAR

dbSNP: rs879253863
rs879253863
TRIM2
0.010 GeneticVariation BEFREE We report a TRIM2 homozygous missense mutation (c.2000A>C; p.D667A) in a patient with peripheral neuropathy and bilateral vocal cord paralysis, allowing for further delineation of the associated phenotypic spectrum. 25893792

2015