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rs863225053

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCATGTCAT;CCATGTCAT) 0 common in clinvar
Make rs863225053(-;-)
Make rs863225053(-;ATGTCATCC)
Make rs863225053(ATGTCATCC;ATGTCATCC)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63690164
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs863225053
dbSNP (old)rs863225053
ClinGenrs863225053
ebirs863225053
HLIrs863225053
Exacrs863225053
Varsomers863225053
Maprs863225053
PheGenIrs863225053
Biobankrs863225053
1000 genomesrs863225053
hgdprs863225053
ensemblrs863225053
gopubmedrs863225053
geneviewrs863225053
scholarrs863225053
googlers863225053
pharmgkbrs863225053
gwascentralrs863225053
openSNPrs863225053
23andMers863225053
23andMe allrs863225053
SNP Nexus

SNPshotrs863225053
SNPdbers863225053
MSV3drs863225053
GWAS Ctlgrs863225053
Max Magnitude0
ClinVar
Risk rs863225053(-;-)
Alt rs863225053(-;-)
Reference Rs863225053(CCATGTCAT;CCATGTCAT)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure Idiopathic fibrosing alveolitis
Variation info
Gene RTEL1-TNFRSF6B RTEL1
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 Idiopathic fibrosing alveolitis, chronic form
Reversed 0
HGVS NC_000020.10:g.62321517_62321525delATGTCATCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000201222.3, RCV000201532.1,