Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779351
rs587779351
0.800 GeneticVariation UNIPROT XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency. 26255102

2015

dbSNP: rs587779351
rs587779351
0.800 GeneticVariation UNIPROT Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. 25839420

2015

dbSNP: rs587779351
rs587779351
0.800 GeneticVariation UNIPROT Mutations in the NHEJ component XRCC4 cause primordial dwarfism. 25728776

2015

dbSNP: rs587779351
rs587779351
0.800 GeneticVariation UNIPROT Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050

2014

dbSNP: rs587779351
rs587779351
C 0.800 CausalMutation CLINVAR

dbSNP: rs797045017
rs797045017
0.800 GeneticVariation UNIPROT

dbSNP: rs797045017
rs797045017
A 0.800 CausalMutation CLINVAR

dbSNP: rs768825050
rs768825050
T 0.700 CausalMutation CLINVAR

dbSNP: rs779773463
rs779773463
T 0.700 CausalMutation CLINVAR

dbSNP: rs797045016
rs797045016
T 0.700 CausalMutation CLINVAR

dbSNP: rs869320677
rs869320677
T 0.700 CausalMutation CLINVAR

dbSNP: rs869320678
rs869320678
T 0.700 CausalMutation CLINVAR

dbSNP: rs879255258
rs879255258
G 0.700 CausalMutation CLINVAR

dbSNP: rs879255259
rs879255259
A 0.700 CausalMutation CLINVAR