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rs786205700

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205700(C;T)
Make rs786205700(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome20
Position63687740
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs786205700
dbSNP (classic)rs786205700
ClinGenrs786205700
ebirs786205700
HLIrs786205700
Exacrs786205700
Gnomadrs786205700
Varsomers786205700
LitVarrs786205700
Maprs786205700
PheGenIrs786205700
Biobankrs786205700
1000 genomesrs786205700
hgdprs786205700
ensemblrs786205700
geneviewrs786205700
scholarrs786205700
googlers786205700
pharmgkbrs786205700
gwascentralrs786205700
openSNPrs786205700
23andMers786205700
SNPshotrs786205700
SNPdbers786205700
MSV3drs786205700
GWAS Ctlgrs786205700
Max Magnitude0
ClinVar
Risk rs786205700(T;T)
Alt rs786205700(T;T)
Reference Rs786205700(C;C)
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.62319093C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170594.3,