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rs121918663

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918663(A;G)
Make rs121918663(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1272252
GeneTERT
is asnp
is mentioned by
dbSNPrs121918663
ebirs121918663
HLIrs121918663
Exacrs121918663
Varsomers121918663
Maprs121918663
PheGenIrs121918663
hapmaprs121918663
1000 genomesrs121918663
hgdprs121918663
ensemblrs121918663
gopubmedrs121918663
geneviewrs121918663
scholarrs121918663
googlers121918663
pharmgkbrs121918663
gwascentralrs121918663
openSNPrs121918663
23andMers121918663
23andMe allrs121918663
SNP Nexus

SNPshotrs121918663
SNPdbers121918663
MSV3drs121918663
GWAS Ctlgrs121918663
Max Magnitude0
OMIM187270
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918663(G;G)
Alt rs121918663(G;G)
Reference rs121918663(A;A)
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.1272367T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013569.23, RCV000032382.1,