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rs199422294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422294(A;A)
Make rs199422294(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1280216
GeneTERT
is asnp
is mentioned by
dbSNPrs199422294
ebirs199422294
HLIrs199422294
Exacrs199422294
Varsomers199422294
Maprs199422294
PheGenIrs199422294
hapmaprs199422294
1000 genomesrs199422294
hgdprs199422294
ensemblrs199422294
gopubmedrs199422294
geneviewrs199422294
scholarrs199422294
googlers199422294
pharmgkbrs199422294
gwascentralrs199422294
openSNPrs199422294
23andMers199422294
23andMe allrs199422294
SNP Nexus

SNPshotrs199422294
SNPdbers199422294
MSV3drs199422294
GWAS Ctlgrs199422294
Max Magnitude0
ClinVar
Risk rs199422294(A;A)
Alt rs199422294(A;A)
Reference Rs199422294(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita Idiopathic fibrosing alveolitis
Variation info
Gene TERT
CLNDBN Dyskeratosis congenita, autosomal dominant, 2 Idiopathic fibrosing alveolitis, chronic form
Reversed 1
HGVS NC_000005.9:g.1280331C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022783.18, RCV000032370.1,