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rs199422267

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs199422267(-;-)
Make rs199422267(-;CT)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764964
GeneTERC
is asnp
is mentioned by
dbSNPrs199422267
ebirs199422267
HLIrs199422267
Exacrs199422267
Varsomers199422267
Maprs199422267
PheGenIrs199422267
hapmaprs199422267
1000 genomesrs199422267
hgdprs199422267
ensemblrs199422267
gopubmedrs199422267
geneviewrs199422267
scholarrs199422267
googlers199422267
pharmgkbrs199422267
gwascentralrs199422267
openSNPrs199422267
23andMers199422267
23andMe allrs199422267
SNP Nexus

SNPshotrs199422267
SNPdbers199422267
MSV3drs199422267
GWAS Ctlgrs199422267
Max Magnitude0
ClinVar
Risk rs199422267(;)
Alt rs199422267(;)
Reference rs199422267(CT;CT)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000003.11:g.169482752_169482753delAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032583.1,