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rs199422284

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422284(C;G)
Make rs199422284(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764653
GeneTERC
is asnp
is mentioned by
dbSNPrs199422284
ebirs199422284
HLIrs199422284
Exacrs199422284
Varsomers199422284
Maprs199422284
PheGenIrs199422284
hapmaprs199422284
1000 genomesrs199422284
hgdprs199422284
ensemblrs199422284
gopubmedrs199422284
geneviewrs199422284
scholarrs199422284
googlers199422284
pharmgkbrs199422284
gwascentralrs199422284
openSNPrs199422284
23andMers199422284
23andMe allrs199422284
SNP Nexus

SNPshotrs199422284
SNPdbers199422284
MSV3drs199422284
GWAS Ctlgrs199422284
Max Magnitude0
ClinVar
Risk rs199422284(A,G;A,G)
Alt rs199422284(A,G;A,G)
Reference rs199422284(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.169482441G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007744.3,