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rs199422263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AACT;AACT) 0 common in clinvar
(TAAC;TAAC) 0 common in clinvar
Make rs199422263(-;-)
Make rs199422263(-;CTAA)
Make rs199422263(CTAA;CTAA)
ReferenceGRCh38 38.1/141
Chromosome3
Position169765006
GeneTERC
is asnp
is mentioned by
dbSNPrs199422263
ebirs199422263
HLIrs199422263
Exacrs199422263
Varsomers199422263
Maprs199422263
PheGenIrs199422263
hapmaprs199422263
1000 genomesrs199422263
hgdprs199422263
ensemblrs199422263
gopubmedrs199422263
geneviewrs199422263
scholarrs199422263
googlers199422263
pharmgkbrs199422263
gwascentralrs199422263
openSNPrs199422263
23andMers199422263
23andMe allrs199422263
SNP Nexus

SNPshotrs199422263
SNPdbers199422263
MSV3drs199422263
GWAS Ctlgrs199422263
Max Magnitude0
ClinVar
Risk rs199422263(;)
Alt rs199422263(;)
Reference rs199422263(AACT;AACT)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000003.11:g.169482792_169482795delAGTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000023192.5,