Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374828868
rs374828868
POP1
0.800 GeneticVariation UNIPROT Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. 28067412

2017
dbSNP: rs374828868
rs374828868
POP1
0.800 GeneticVariation UNIPROT Further evidence of POP1 mutations as the cause of anauxetic dysplasia. 27380734

2016
dbSNP: rs374828868
rs374828868
POP1
0.800 GeneticVariation UNIPROT Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. 21455487

2011
dbSNP: rs374828868
rs374828868
POP1
A 0.800 CausalMutation CLINVAR