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rs281865548

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865548(C;T)
Make rs281865548(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7702770
GeneWRAP53
is asnp
is mentioned by
dbSNPrs281865548
ebirs281865548
HLIrs281865548
Exacrs281865548
Varsomers281865548
Maprs281865548
PheGenIrs281865548
hapmaprs281865548
1000 genomesrs281865548
hgdprs281865548
ensemblrs281865548
gopubmedrs281865548
geneviewrs281865548
scholarrs281865548
googlers281865548
pharmgkbrs281865548
gwascentralrs281865548
openSNPrs281865548
23andMers281865548
23andMe allrs281865548
SNP Nexus

SNPshotrs281865548
SNPdbers281865548
MSV3drs281865548
GWAS Ctlgrs281865548
Max Magnitude0
ClinVar
Risk rs281865548(T;T)
Alt rs281865548(T;T)
Reference rs281865548(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita
Variation info
Gene WRAP53
CLNDBN Dyskeratosis congenita, autosomal recessive, 3
Reversed 0
HGVS NC_000017.10:g.7606088C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023966.5,


[PMID 21205863OA-icon.png] Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.