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rs121918665

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918665(C;C)
Make rs121918665(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1264541
GeneTERT
is asnp
is mentioned by
dbSNPrs121918665
ebirs121918665
HLIrs121918665
Exacrs121918665
Varsomers121918665
Maprs121918665
PheGenIrs121918665
hapmaprs121918665
1000 genomesrs121918665
hgdprs121918665
ensemblrs121918665
gopubmedrs121918665
geneviewrs121918665
scholarrs121918665
googlers121918665
pharmgkbrs121918665
gwascentralrs121918665
openSNPrs121918665
23andMers121918665
23andMe allrs121918665
SNP Nexus

SNPshotrs121918665
SNPdbers121918665
MSV3drs121918665
GWAS Ctlgrs121918665
Max Magnitude0
OMIM187270
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918665(C;C)
Alt rs121918665(C;C)
Reference rs121918665(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita Dyskeratosis congenita autosomal dominant
Variation info
Gene TERT
CLNDBN Dyskeratosis congenita, autosomal dominant, 2 Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000005.9:g.1264656C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013572.24, RCV000032389.1,