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rs199422274

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422274(A;A)
Make rs199422274(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764918
GeneTERC
is asnp
is mentioned by
dbSNPrs199422274
ebirs199422274
HLIrs199422274
Exacrs199422274
Varsomers199422274
Maprs199422274
PheGenIrs199422274
hapmaprs199422274
1000 genomesrs199422274
hgdprs199422274
ensemblrs199422274
gopubmedrs199422274
geneviewrs199422274
scholarrs199422274
googlers199422274
pharmgkbrs199422274
gwascentralrs199422274
openSNPrs199422274
23andMers199422274
23andMe allrs199422274
SNP Nexus

SNPshotrs199422274
SNPdbers199422274
MSV3drs199422274
GWAS Ctlgrs199422274
Max Magnitude0
ClinVar
Risk rs199422274(A;A)
Alt rs199422274(A;A)
Reference rs199422274(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000003.11:g.169482706C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032561.1,