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rs199422257

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422257(C;C)
Make rs199422257(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position169765059
GeneTERC
is asnp
is mentioned by
dbSNPrs199422257
ebirs199422257
HLIrs199422257
Exacrs199422257
Varsomers199422257
Maprs199422257
PheGenIrs199422257
hapmaprs199422257
1000 genomesrs199422257
hgdprs199422257
ensemblrs199422257
gopubmedrs199422257
geneviewrs199422257
scholarrs199422257
googlers199422257
pharmgkbrs199422257
gwascentralrs199422257
openSNPrs199422257
23andMers199422257
23andMe allrs199422257
SNP Nexus

SNPshotrs199422257
SNPdbers199422257
MSV3drs199422257
GWAS Ctlgrs199422257
Max Magnitude0
ClinVar
Risk rs199422257(C;C)
Alt rs199422257(C;C)
Reference rs199422257(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.169482847C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032568.1,