Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281865548
rs281865548
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
CUI: C3151442
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.800 GeneticVariation UNIPROT Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. 21205863 2011
dbSNP: rs281865548
rs281865548
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
CUI: C3151442
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.800 GeneticVariation UNIPROT Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 21602826 2011
dbSNP: rs281865548
rs281865548
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
CUI: C3151442
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		T 0.800 CausalMutation CLINVAR