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rs199422297

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422297(C;T)
Make rs199422297(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position1279311
GeneTERT
is asnp
is mentioned by
dbSNPrs199422297
ebirs199422297
HLIrs199422297
Exacrs199422297
Varsomers199422297
Maprs199422297
PheGenIrs199422297
hapmaprs199422297
1000 genomesrs199422297
hgdprs199422297
ensemblrs199422297
gopubmedrs199422297
geneviewrs199422297
scholarrs199422297
googlers199422297
pharmgkbrs199422297
gwascentralrs199422297
openSNPrs199422297
23andMers199422297
23andMe allrs199422297
SNP Nexus

SNPshotrs199422297
SNPdbers199422297
MSV3drs199422297
GWAS Ctlgrs199422297
Max Magnitude0
ClinVar
Risk rs199422297(T;T)
Alt rs199422297(T;T)
Reference rs199422297(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita Dyskeratosis congenita autosomal dominant
Variation info
Gene TERT
CLNDBN Dyskeratosis congenita, autosomal recessive, 4 Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000005.9:g.1279426G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022786.23, RCV000032375.1,