Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751478142
rs751478142
HSPA9 ; LOC105379193
0.810 GeneticVariation BEFREE We used differential scanning fluorimetry (DSF), biolayer interferometry, X-ray crystallography, ATP hydrolysis assays, and Rosetta docking simulations to study the structural and functional consequences of the EVEN-PLUS syndrome-associated R126W and Y128C mutations within the mortalin-NBD. 30933555

2019
dbSNP: rs751478142
rs751478142
HSPA9 ; LOC105379193
0.810 GeneticVariation UNIPROT

dbSNP: rs751478142
rs751478142
HSPA9 ; LOC105379193
A 0.810 CausalMutation CLINVAR