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rs199422260

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422260(C;T)
Make rs199422260(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position169765026
GeneTERC
is asnp
is mentioned by
dbSNPrs199422260
ebirs199422260
HLIrs199422260
Exacrs199422260
Varsomers199422260
Maprs199422260
PheGenIrs199422260
hapmaprs199422260
1000 genomesrs199422260
hgdprs199422260
ensemblrs199422260
gopubmedrs199422260
geneviewrs199422260
scholarrs199422260
googlers199422260
pharmgkbrs199422260
gwascentralrs199422260
openSNPrs199422260
23andMers199422260
23andMe allrs199422260
SNP Nexus

SNPshotrs199422260
SNPdbers199422260
MSV3drs199422260
GWAS Ctlgrs199422260
Max Magnitude0
ClinVar
Risk rs199422260(T;T)
Alt rs199422260(T;T)
Reference rs199422260(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.169482814G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032572.1,