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rs199422304

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422304(C;T)
Make rs199422304(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position1264546
GeneTERT
is asnp
is mentioned by
dbSNPrs199422304
ebirs199422304
HLIrs199422304
Exacrs199422304
Varsomers199422304
Maprs199422304
PheGenIrs199422304
hapmaprs199422304
1000 genomesrs199422304
hgdprs199422304
ensemblrs199422304
gopubmedrs199422304
geneviewrs199422304
scholarrs199422304
googlers199422304
pharmgkbrs199422304
gwascentralrs199422304
openSNPrs199422304
23andMers199422304
23andMe allrs199422304
SNP Nexus

SNPshotrs199422304
SNPdbers199422304
MSV3drs199422304
GWAS Ctlgrs199422304
Max Magnitude0
ClinVar
Risk rs199422304(T;T)
Alt rs199422304(T;T)
Reference rs199422304(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita Dyskeratosis congenita autosomal recessive 1
Variation info
Gene TERT
CLNDBN Dyskeratosis congenita, autosomal recessive, 4 Dyskeratosis congenita autosomal recessive 1
Reversed 1
HGVS NC_000005.9:g.1264661G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022785.19, RCV000032388.1,