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rs199422295

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422295(A;A)
Make rs199422295(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1279376
GeneTERT
is asnp
is mentioned by
dbSNPrs199422295
ebirs199422295
HLIrs199422295
Exacrs199422295
Varsomers199422295
Maprs199422295
PheGenIrs199422295
hapmaprs199422295
1000 genomesrs199422295
hgdprs199422295
ensemblrs199422295
gopubmedrs199422295
geneviewrs199422295
scholarrs199422295
googlers199422295
pharmgkbrs199422295
gwascentralrs199422295
openSNPrs199422295
23andMers199422295
23andMe allrs199422295
SNP Nexus

SNPshotrs199422295
SNPdbers199422295
MSV3drs199422295
GWAS Ctlgrs199422295
Max Magnitude0
ClinVar
Risk rs199422295(A;A)
Alt rs199422295(A;A)
Reference rs199422295(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TERT
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000005.9:g.1279491C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032372.1,