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rs121918664

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918664(A;A)
Make rs121918664(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1254395
GeneTERT
is asnp
is mentioned by
dbSNPrs121918664
ebirs121918664
HLIrs121918664
Exacrs121918664
Varsomers121918664
Maprs121918664
PheGenIrs121918664
hapmaprs121918664
1000 genomesrs121918664
hgdprs121918664
ensemblrs121918664
gopubmedrs121918664
geneviewrs121918664
scholarrs121918664
googlers121918664
pharmgkbrs121918664
gwascentralrs121918664
openSNPrs121918664
23andMers121918664
23andMe allrs121918664
SNP Nexus

SNPshotrs121918664
SNPdbers121918664
MSV3drs121918664
GWAS Ctlgrs121918664
Max Magnitude0
OMIM187270
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918664(A;A)
Alt rs121918664(A;A)
Reference rs121918664(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.1254510C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013570.22, RCV000032394.1,