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rs281865549

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865549(C;T)
Make rs281865549(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7702514
GeneWRAP53
is asnp
is mentioned by
dbSNPrs281865549
ebirs281865549
HLIrs281865549
Exacrs281865549
Varsomers281865549
Maprs281865549
PheGenIrs281865549
hapmaprs281865549
1000 genomesrs281865549
hgdprs281865549
ensemblrs281865549
gopubmedrs281865549
geneviewrs281865549
scholarrs281865549
googlers281865549
pharmgkbrs281865549
gwascentralrs281865549
openSNPrs281865549
23andMers281865549
23andMe allrs281865549
SNP Nexus

SNPshotrs281865549
SNPdbers281865549
MSV3drs281865549
GWAS Ctlgrs281865549
Max Magnitude0
ClinVar
Risk rs281865549(T;T)
Alt rs281865549(T;T)
Reference rs281865549(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita
Variation info
Gene WRAP53
CLNDBN Dyskeratosis congenita, autosomal recessive, 3
Reversed 0
HGVS NC_000017.10:g.7605832C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023967.4,


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