Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281865547
rs281865547
0.800 GeneticVariation UNIPROT Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. 21205863

2011

dbSNP: rs281865547
rs281865547
0.800 GeneticVariation UNIPROT Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 21602826

2011

dbSNP: rs281865548
rs281865548
0.800 GeneticVariation UNIPROT Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. 21205863

2011

dbSNP: rs281865548
rs281865548
0.800 GeneticVariation UNIPROT Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 21602826

2011

dbSNP: rs281865549
rs281865549
0.800 GeneticVariation UNIPROT Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. 21205863

2011

dbSNP: rs281865549
rs281865549
0.800 GeneticVariation UNIPROT Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 21602826

2011

dbSNP: rs281865550
rs281865550
0.800 GeneticVariation UNIPROT Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. 21205863

2011

dbSNP: rs281865550
rs281865550
0.800 GeneticVariation UNIPROT Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 21602826

2011

dbSNP: rs281865547
rs281865547
A 0.800 CausalMutation CLINVAR

dbSNP: rs281865548
rs281865548
T 0.800 CausalMutation CLINVAR

dbSNP: rs281865549
rs281865549
T 0.800 CausalMutation CLINVAR

dbSNP: rs281865550
rs281865550
A 0.800 CausalMutation CLINVAR