Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908092
rs121908092
NOP10 ; NUTM1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121908092
rs121908092
NOP10 ; NUTM1
0.800 GeneticVariation UNIPROT Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. 17507419

2007
dbSNP: rs121908092
rs121908092
NOP10 ; NUTM1
A 0.800 CausalMutation CLINVAR