Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777568
rs587777568
RN7SL1 ; RPS29 ; LOC107987206
0.800 GeneticVariation UNIPROT Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. 24829207

2014
dbSNP: rs587777568
rs587777568
RN7SL1 ; RPS29 ; LOC107987206
A 0.800 CausalMutation CLINVAR