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rs281865550

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865550(A;A)
Make rs281865550(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position7703027
GeneWRAP53
is asnp
is mentioned by
dbSNPrs281865550
ebirs281865550
HLIrs281865550
Exacrs281865550
Varsomers281865550
Maprs281865550
PheGenIrs281865550
hapmaprs281865550
1000 genomesrs281865550
hgdprs281865550
ensemblrs281865550
gopubmedrs281865550
geneviewrs281865550
scholarrs281865550
googlers281865550
pharmgkbrs281865550
gwascentralrs281865550
openSNPrs281865550
23andMers281865550
23andMe allrs281865550
SNP Nexus

SNPshotrs281865550
SNPdbers281865550
MSV3drs281865550
GWAS Ctlgrs281865550
Max Magnitude0
ClinVar
Risk rs281865550(A;A)
Alt rs281865550(A;A)
Reference rs281865550(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita
Variation info
Gene WRAP53
CLNDBN Dyskeratosis congenita, autosomal recessive, 3
Reversed 0
HGVS NC_000017.10:g.7606345G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034151.6,


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