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rs121918661

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs121918661(A;A)
Make rs121918661(A;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position1294282
GeneTERT
is asnp
is mentioned by
dbSNPrs121918661
ebirs121918661
HLIrs121918661
Exacrs121918661
Varsomers121918661
Maprs121918661
PheGenIrs121918661
hapmaprs121918661
1000 genomesrs121918661
hgdprs121918661
ensemblrs121918661
gopubmedrs121918661
geneviewrs121918661
scholarrs121918661
googlers121918661
pharmgkbrs121918661
gwascentralrs121918661
openSNPrs121918661
23andMers121918661
23andMe allrs121918661
SNP Nexus

SNPshotrs121918661
SNPdbers121918661
MSV3drs121918661
GWAS Ctlgrs121918661
Max Magnitude0
OMIM187270
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918661(A;A)
Alt rs121918661(A;A)
Reference rs121918661(G;G)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure Aplastic anemia
Variation info
Gene TERT
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 Aplastic anemia
Reversed 1
HGVS NC_000005.9:g.1294397C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013566.23, RCV000032398.1,