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rs776744306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs776744306(C;C)
Make rs776744306(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63690442
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs776744306
dbSNP (classic)rs776744306
ClinGenrs776744306
ebirs776744306
HLIrs776744306
Exacrs776744306
Gnomadrs776744306
Varsomers776744306
LitVarrs776744306
Maprs776744306
PheGenIrs776744306
Biobankrs776744306
1000 genomesrs776744306
hgdprs776744306
ensemblrs776744306
geneviewrs776744306
scholarrs776744306
googlers776744306
pharmgkbrs776744306
gwascentralrs776744306
openSNPrs776744306
23andMers776744306
SNPshotrs776744306
SNPdbers776744306
MSV3drs776744306
GWAS Ctlgrs776744306
Max Magnitude0
ClinVar
Risk rs776744306(A;A) rs776744306(C;C)
Alt rs776744306(A;A) rs776744306(C;C)
Reference Rs776744306(G;G)
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.62321795G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000201225.3, RCV000201651.1,