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rs878855300

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878855300(C;T)
Make rs878855300(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position1279323
GeneTERT
is asnp
is mentioned by
dbSNPrs878855300
ebirs878855300
HLIrs878855300
Exacrs878855300
Varsomers878855300
Maprs878855300
PheGenIrs878855300
hapmaprs878855300
1000 genomesrs878855300
hgdprs878855300
ensemblrs878855300
gopubmedrs878855300
geneviewrs878855300
scholarrs878855300
googlers878855300
pharmgkbrs878855300
gwascentralrs878855300
openSNPrs878855300
23andMers878855300
23andMe allrs878855300
SNP Nexus

SNPshotrs878855300
SNPdbers878855300
MSV3drs878855300
GWAS Ctlgrs878855300
Max Magnitude0
ClinVar
Risk rs878855300(T;T)
Alt rs878855300(T;T)
Reference rs878855300(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita
Variation info
Gene TERT
CLNDBN Dyskeratosis congenita, autosomal dominant, 2
Reversed 1
HGVS NC_000005.9:g.1279438G>A
CLNSRC
CLNACC RCV000227254.1,