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rs199422261

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422261(A;G)
Make rs199422261(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position169765024
GeneTERC
is asnp
is mentioned by
dbSNPrs199422261
ebirs199422261
HLIrs199422261
Exacrs199422261
Varsomers199422261
Maprs199422261
PheGenIrs199422261
hapmaprs199422261
1000 genomesrs199422261
hgdprs199422261
ensemblrs199422261
gopubmedrs199422261
geneviewrs199422261
scholarrs199422261
googlers199422261
pharmgkbrs199422261
gwascentralrs199422261
openSNPrs199422261
23andMers199422261
23andMe allrs199422261
SNP Nexus

SNPshotrs199422261
SNPdbers199422261
MSV3drs199422261
GWAS Ctlgrs199422261
Max Magnitude0
ClinVar
Risk rs199422261(G,T;G,T)
Alt rs199422261(G,T;G,T)
Reference rs199422261(A;A)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000003.11:g.169482812T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032573.1,