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rs199422305

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422305(C;T)
Make rs199422305(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position1260509
GeneTERT
is asnp
is mentioned by
dbSNPrs199422305
ebirs199422305
HLIrs199422305
Exacrs199422305
Varsomers199422305
Maprs199422305
PheGenIrs199422305
hapmaprs199422305
1000 genomesrs199422305
hgdprs199422305
ensemblrs199422305
gopubmedrs199422305
geneviewrs199422305
scholarrs199422305
googlers199422305
pharmgkbrs199422305
gwascentralrs199422305
openSNPrs199422305
23andMers199422305
23andMe allrs199422305
SNP Nexus

SNPshotrs199422305
SNPdbers199422305
MSV3drs199422305
GWAS Ctlgrs199422305
Max Magnitude0
ClinVar
Risk rs199422305(T;T)
Alt rs199422305(T;T)
Reference rs199422305(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant Aplastic anemia
Variation info
Gene TERT
CLNDBN Dyskeratosis congenita autosomal dominant Aplastic anemia
Reversed 1
HGVS NC_000005.9:g.1260624G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032390.1, RCV000144245.1,