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rs387907249

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907249(A;A)
Make rs387907249(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1278781
GeneTERT
is asnp
is mentioned by
dbSNPrs387907249
ebirs387907249
HLIrs387907249
Exacrs387907249
Varsomers387907249
Maprs387907249
PheGenIrs387907249
hapmaprs387907249
1000 genomesrs387907249
hgdprs387907249
ensemblrs387907249
gopubmedrs387907249
geneviewrs387907249
scholarrs387907249
googlers387907249
pharmgkbrs387907249
gwascentralrs387907249
openSNPrs387907249
23andMers387907249
23andMe allrs387907249
SNP Nexus

SNPshotrs387907249
SNPdbers387907249
MSV3drs387907249
GWAS Ctlgrs387907249
Max Magnitude0
ClinVar
Risk rs387907249(A;A)
Alt rs387907249(A;A)
Reference rs387907249(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.1278896C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030629.22,