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rs199422268

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422268(A;A)
Make rs199422268(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764963
GeneTERC
is asnp
is mentioned by
dbSNPrs199422268
ebirs199422268
HLIrs199422268
Exacrs199422268
Varsomers199422268
Maprs199422268
PheGenIrs199422268
hapmaprs199422268
1000 genomesrs199422268
hgdprs199422268
ensemblrs199422268
gopubmedrs199422268
geneviewrs199422268
scholarrs199422268
googlers199422268
pharmgkbrs199422268
gwascentralrs199422268
openSNPrs199422268
23andMers199422268
23andMe allrs199422268
SNP Nexus

SNPshotrs199422268
SNPdbers199422268
MSV3drs199422268
GWAS Ctlgrs199422268
Max Magnitude0
ClinVar
Risk rs199422268(A;A)
Alt rs199422268(A;A)
Reference rs199422268(G;G)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure Idiopathic fibrosing alveolitis
Variation info
Gene TERC
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 Idiopathic fibrosing alveolitis, chronic form
Reversed 1
HGVS NC_000003.11:g.169482751C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007751.2, RCV000032584.1,