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rs199422286

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422286(C;G)
Make rs199422286(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764651
GeneTERC
is asnp
is mentioned by
dbSNPrs199422286
ebirs199422286
HLIrs199422286
Exacrs199422286
Varsomers199422286
Maprs199422286
PheGenIrs199422286
hapmaprs199422286
1000 genomesrs199422286
hgdprs199422286
ensemblrs199422286
gopubmedrs199422286
geneviewrs199422286
scholarrs199422286
googlers199422286
pharmgkbrs199422286
gwascentralrs199422286
openSNPrs199422286
23andMers199422286
23andMe allrs199422286
SNP Nexus

SNPshotrs199422286
SNPdbers199422286
MSV3drs199422286
GWAS Ctlgrs199422286
Max Magnitude0
ClinVar
Risk rs199422286(G;G)
Alt rs199422286(G;G)
Reference rs199422286(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.169482439G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032575.1,