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rs199422255

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs199422255(-;-)
Make rs199422255(-;CT)
ReferenceGRCh38 38.1/141
Chromosome3
Position169765299
GeneTERC
is asnp
is mentioned by
dbSNPrs199422255
ebirs199422255
HLIrs199422255
Exacrs199422255
Varsomers199422255
Maprs199422255
PheGenIrs199422255
hapmaprs199422255
1000 genomesrs199422255
hgdprs199422255
ensemblrs199422255
gopubmedrs199422255
geneviewrs199422255
scholarrs199422255
googlers199422255
pharmgkbrs199422255
gwascentralrs199422255
openSNPrs199422255
23andMers199422255
23andMe allrs199422255
SNP Nexus

SNPshotrs199422255
SNPdbers199422255
MSV3drs199422255
GWAS Ctlgrs199422255
Max Magnitude0
ClinVar
Risk rs199422255(;)
Alt rs199422255(;)
Reference rs199422255(CT;CT)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000003.11:g.169483087_169483088delAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032557.1,