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rs199422299

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422299(C;G)
Make rs199422299(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1278765
GeneTERT
is asnp
is mentioned by
dbSNPrs199422299
ebirs199422299
HLIrs199422299
Exacrs199422299
Varsomers199422299
Maprs199422299
PheGenIrs199422299
hapmaprs199422299
1000 genomesrs199422299
hgdprs199422299
ensemblrs199422299
gopubmedrs199422299
geneviewrs199422299
scholarrs199422299
googlers199422299
pharmgkbrs199422299
gwascentralrs199422299
openSNPrs199422299
23andMers199422299
23andMe allrs199422299
SNP Nexus

SNPshotrs199422299
SNPdbers199422299
MSV3drs199422299
GWAS Ctlgrs199422299
Max Magnitude0
ClinVar
Risk rs199422299(G;G)
Alt rs199422299(G;G)
Reference rs199422299(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TERT
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000005.9:g.1278880G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032377.1,