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rs863223336

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863223336(-;-)
Make rs863223336(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63666067
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs863223336
dbSNP (classic)rs863223336
ClinGenrs863223336
ebirs863223336
HLIrs863223336
Exacrs863223336
Gnomadrs863223336
Varsomers863223336
LitVarrs863223336
Maprs863223336
PheGenIrs863223336
Biobankrs863223336
1000 genomesrs863223336
hgdprs863223336
ensemblrs863223336
geneviewrs863223336
scholarrs863223336
googlers863223336
pharmgkbrs863223336
gwascentralrs863223336
openSNPrs863223336
23andMers863223336
SNPshotrs863223336
SNPdbers863223336
MSV3drs863223336
GWAS Ctlgrs863223336
Max Magnitude0
ClinVar
Risk rs863223336(-;-)
Alt rs863223336(-;-)
Reference Rs863223336(G;G)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure
Variation info
Gene RTEL1-TNFRSF6B RTEL1
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
Reversed 0
HGVS NC_000020.10:g.62297420delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000170593.4,