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rs199422300

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199422300(-;-)
Make rs199422300(-;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position1278687
GeneTERT
is asnp
is mentioned by
dbSNPrs199422300
ebirs199422300
HLIrs199422300
Exacrs199422300
Varsomers199422300
Maprs199422300
PheGenIrs199422300
hapmaprs199422300
1000 genomesrs199422300
hgdprs199422300
ensemblrs199422300
gopubmedrs199422300
geneviewrs199422300
scholarrs199422300
googlers199422300
pharmgkbrs199422300
gwascentralrs199422300
openSNPrs199422300
23andMers199422300
23andMe allrs199422300
SNP Nexus

SNPshotrs199422300
SNPdbers199422300
MSV3drs199422300
GWAS Ctlgrs199422300
Max Magnitude0
ClinVar
Risk rs199422300(;)
Alt rs199422300(;)
Reference rs199422300(T;T)
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.1278802delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000013574.24, RCV000032381.1,