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rs121918662

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918662(A;A)
Make rs121918662(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1279341
GeneTERT
is asnp
is mentioned by
dbSNPrs121918662
ebirs121918662
HLIrs121918662
Exacrs121918662
Varsomers121918662
Maprs121918662
PheGenIrs121918662
hapmaprs121918662
1000 genomesrs121918662
hgdprs121918662
ensemblrs121918662
gopubmedrs121918662
geneviewrs121918662
scholarrs121918662
googlers121918662
pharmgkbrs121918662
gwascentralrs121918662
openSNPrs121918662
23andMers121918662
23andMe allrs121918662
SNP Nexus

SNPshotrs121918662
SNPdbers121918662
MSV3drs121918662
GWAS Ctlgrs121918662
Max Magnitude0
OMIM187270
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918662(A;A)
Alt rs121918662(A;A)
Reference rs121918662(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.1279456C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013568.23, RCV000032373.1,