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rs199422301

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422301(C;T)
Make rs199422301(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position1271156
GeneTERT
is asnp
is mentioned by
dbSNPrs199422301
ebirs199422301
HLIrs199422301
Exacrs199422301
Varsomers199422301
Maprs199422301
PheGenIrs199422301
hapmaprs199422301
1000 genomesrs199422301
hgdprs199422301
ensemblrs199422301
gopubmedrs199422301
geneviewrs199422301
scholarrs199422301
googlers199422301
pharmgkbrs199422301
gwascentralrs199422301
openSNPrs199422301
23andMers199422301
23andMe allrs199422301
SNP Nexus

SNPshotrs199422301
SNPdbers199422301
MSV3drs199422301
GWAS Ctlgrs199422301
Max Magnitude0
ClinVar
Risk rs199422301(T;T)
Alt rs199422301(T;T)
Reference rs199422301(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.1271271G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022784.24, RCV000032383.1,