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rs199422269

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199422269(A;A)
Make rs199422269(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764961
GeneTERC
is asnp
is mentioned by
dbSNPrs199422269
ebirs199422269
HLIrs199422269
Exacrs199422269
Varsomers199422269
Maprs199422269
PheGenIrs199422269
hapmaprs199422269
1000 genomesrs199422269
hgdprs199422269
ensemblrs199422269
gopubmedrs199422269
geneviewrs199422269
scholarrs199422269
googlers199422269
pharmgkbrs199422269
gwascentralrs199422269
openSNPrs199422269
23andMers199422269
23andMe allrs199422269
SNP Nexus

SNPshotrs199422269
SNPdbers199422269
MSV3drs199422269
GWAS Ctlgrs199422269
Max Magnitude0
ClinVar
Risk rs199422269(A;A)
Alt rs199422269(A;A)
Reference rs199422269(T;T)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000003.11:g.169482749A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032558.1,