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rs387907248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907248(A;A)
Make rs387907248(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1294378
GeneTERT
is asnp
is mentioned by
dbSNPrs387907248
ebirs387907248
HLIrs387907248
Exacrs387907248
Varsomers387907248
Maprs387907248
PheGenIrs387907248
hapmaprs387907248
1000 genomesrs387907248
hgdprs387907248
ensemblrs387907248
gopubmedrs387907248
geneviewrs387907248
scholarrs387907248
googlers387907248
pharmgkbrs387907248
gwascentralrs387907248
openSNPrs387907248
23andMers387907248
23andMe allrs387907248
SNP Nexus

SNPshotrs387907248
SNPdbers387907248
MSV3drs387907248
GWAS Ctlgrs387907248
Max Magnitude0
ClinVar
Risk rs387907248(A;A)
Alt rs387907248(A;A)
Reference rs387907248(G;G)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure
Variation info
Gene TERT
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
Reversed 1
HGVS NC_000005.9:g.1294493C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030628.24,