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rs199422309

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422309(A;A)
Make rs199422309(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1294770
GeneTERT
is asnp
is mentioned by
dbSNPrs199422309
ebirs199422309
HLIrs199422309
Exacrs199422309
Varsomers199422309
Maprs199422309
PheGenIrs199422309
hapmaprs199422309
1000 genomesrs199422309
hgdprs199422309
ensemblrs199422309
gopubmedrs199422309
geneviewrs199422309
scholarrs199422309
googlers199422309
pharmgkbrs199422309
gwascentralrs199422309
openSNPrs199422309
23andMers199422309
23andMe allrs199422309
SNP Nexus

SNPshotrs199422309
SNPdbers199422309
MSV3drs199422309
GWAS Ctlgrs199422309
Max Magnitude0
ClinVar
Risk rs199422309(A;A)
Alt rs199422309(A;A)
Reference rs199422309(G;G)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure Idiopathic fibrosing alveolitis
Variation info
Gene TERT
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 Idiopathic fibrosing alveolitis, chronic form
Reversed 1
HGVS NC_000005.9:g.1294885C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013575.24, RCV000032380.1,