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rs281865547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865547(A;A)
Make rs281865547(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position7689284
GeneTP53, WRAP53
is asnp
is mentioned by
dbSNPrs281865547
ebirs281865547
HLIrs281865547
Exacrs281865547
Varsomers281865547
Maprs281865547
PheGenIrs281865547
hapmaprs281865547
1000 genomesrs281865547
hgdprs281865547
ensemblrs281865547
gopubmedrs281865547
geneviewrs281865547
scholarrs281865547
googlers281865547
pharmgkbrs281865547
gwascentralrs281865547
openSNPrs281865547
23andMers281865547
23andMe allrs281865547
SNP Nexus

SNPshotrs281865547
SNPdbers281865547
MSV3drs281865547
GWAS Ctlgrs281865547
Max Magnitude0
ClinVar
Risk rs281865547(A;A)
Alt rs281865547(A;A)
Reference rs281865547(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita
Variation info
Gene TP53 WRAP53
CLNDBN Dyskeratosis congenita, autosomal recessive, 3
Reversed 0
HGVS NC_000017.10:g.7592602C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034152.5,


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