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rs199422278

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGCGGGTCGCCTGC;GGCGGGTCGCCTGC) 0 common in clinvar
Make rs199422278(-;-)
Make rs199422278(-;GGCGGGTCGCCTGC)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764832
GeneTERC
is asnp
is mentioned by
dbSNPrs199422278
ebirs199422278
HLIrs199422278
Exacrs199422278
Varsomers199422278
Maprs199422278
PheGenIrs199422278
hapmaprs199422278
1000 genomesrs199422278
hgdprs199422278
ensemblrs199422278
gopubmedrs199422278
geneviewrs199422278
scholarrs199422278
googlers199422278
pharmgkbrs199422278
gwascentralrs199422278
openSNPrs199422278
23andMers199422278
23andMe allrs199422278
SNP Nexus

SNPshotrs199422278
SNPdbers199422278
MSV3drs199422278
GWAS Ctlgrs199422278
Max Magnitude0
ClinVar
Risk rs199422278(;)
Alt rs199422278(;)
Reference rs199422278(GGCGGGTCGCCTGC;GGCGGGTCGCCTGC)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000003.11:g.169482620_169482633delGCAGGCGACCCGCC
CLNSRC ClinVar GeneReviews
CLNACC RCV000032565.1,