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rs748223349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs748223349(C;C)
Make rs748223349(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63688001
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs748223349
dbSNP (classic)rs748223349
ClinGenrs748223349
ebirs748223349
HLIrs748223349
Exacrs748223349
Gnomadrs748223349
Varsomers748223349
LitVarrs748223349
Maprs748223349
PheGenIrs748223349
Biobankrs748223349
1000 genomesrs748223349
hgdprs748223349
ensemblrs748223349
geneviewrs748223349
scholarrs748223349
googlers748223349
pharmgkbrs748223349
gwascentralrs748223349
openSNPrs748223349
23andMers748223349
SNPshotrs748223349
SNPdbers748223349
MSV3drs748223349
GWAS Ctlgrs748223349
Max Magnitude0
ClinVar
Risk rs748223349(A;A) rs748223349(C;C)
Alt rs748223349(A;A) rs748223349(C;C)
Reference Rs748223349(G;G)
Significance Pathogenic
Disease Idiopathic fibrosing alveolitis
Variation info
Gene RTEL1-TNFRSF6B RTEL1
CLNDBN Idiopathic fibrosing alveolitis, chronic form
Reversed 0
HGVS NC_000020.10:g.62319354G>C
CLNSRC
CLNACC RCV000201648.1,