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rs199422272

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422272(C;T)
Make rs199422272(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764945
GeneTERC
is asnp
is mentioned by
dbSNPrs199422272
ebirs199422272
HLIrs199422272
Exacrs199422272
Varsomers199422272
Maprs199422272
PheGenIrs199422272
hapmaprs199422272
1000 genomesrs199422272
hgdprs199422272
ensemblrs199422272
gopubmedrs199422272
geneviewrs199422272
scholarrs199422272
googlers199422272
pharmgkbrs199422272
gwascentralrs199422272
openSNPrs199422272
23andMers199422272
23andMe allrs199422272
SNP Nexus

SNPshotrs199422272
SNPdbers199422272
MSV3drs199422272
GWAS Ctlgrs199422272
Max Magnitude0
ClinVar
Risk rs199422272(T;T)
Alt rs199422272(T;T)
Reference rs199422272(C;C)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000003.11:g.169482733G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007750.2, RCV000032559.1,