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rs199422266

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422266(-;-)
Make rs199422266(-;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764982
GeneTERC
is asnp
is mentioned by
dbSNPrs199422266
ebirs199422266
HLIrs199422266
Exacrs199422266
Varsomers199422266
Maprs199422266
PheGenIrs199422266
hapmaprs199422266
1000 genomesrs199422266
hgdprs199422266
ensemblrs199422266
gopubmedrs199422266
geneviewrs199422266
scholarrs199422266
googlers199422266
pharmgkbrs199422266
gwascentralrs199422266
openSNPrs199422266
23andMers199422266
23andMe allrs199422266
SNP Nexus

SNPshotrs199422266
SNPdbers199422266
MSV3drs199422266
GWAS Ctlgrs199422266
Max Magnitude0
ClinVar
Risk rs199422266(;)
Alt rs199422266(;)
Reference rs199422266(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000003.11:g.169482770delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032582.1,