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rs201159197

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201159197(A;A)
Make rs201159197(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position1266519
GeneTERT
is asnp
is mentioned by
dbSNPrs201159197
ebirs201159197
HLIrs201159197
Exacrs201159197
Varsomers201159197
Maprs201159197
PheGenIrs201159197
hapmaprs201159197
1000 genomesrs201159197
hgdprs201159197
ensemblrs201159197
gopubmedrs201159197
geneviewrs201159197
scholarrs201159197
googlers201159197
pharmgkbrs201159197
gwascentralrs201159197
openSNPrs201159197
23andMers201159197
23andMe allrs201159197
SNP Nexus

SNPshotrs201159197
SNPdbers201159197
MSV3drs201159197
GWAS Ctlgrs201159197
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs201159197(A;A) rs201159197(T;T)
Alt rs201159197(A;A) rs201159197(T;T)
Reference Rs201159197(C;C)
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 0
HGVS NC_000005.9:g.1266634C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030627.23,