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rs387907250

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907250(A;G)
Make rs387907250(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1264542
GeneTERT
is asnp
is mentioned by
dbSNPrs387907250
ebirs387907250
HLIrs387907250
Exacrs387907250
Varsomers387907250
Maprs387907250
PheGenIrs387907250
hapmaprs387907250
1000 genomesrs387907250
hgdprs387907250
ensemblrs387907250
gopubmedrs387907250
geneviewrs387907250
scholarrs387907250
googlers387907250
pharmgkbrs387907250
gwascentralrs387907250
openSNPrs387907250
23andMers387907250
23andMe allrs387907250
SNP Nexus

SNPshotrs387907250
SNPdbers387907250
MSV3drs387907250
GWAS Ctlgrs387907250
Max Magnitude0
ClinVar
Risk rs387907250(G;G)
Alt rs387907250(G;G)
Reference rs387907250(A;A)
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.1264657T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000030630.24,