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rs146221660

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs146221660(A;A)
Make rs146221660(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63693248
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs146221660
dbSNP (classic)rs146221660
ClinGenrs146221660
ebirs146221660
HLIrs146221660
Exacrs146221660
Gnomadrs146221660
Varsomers146221660
LitVarrs146221660
Maprs146221660
PheGenIrs146221660
Biobankrs146221660
1000 genomesrs146221660
hgdprs146221660
ensemblrs146221660
geneviewrs146221660
scholarrs146221660
googlers146221660
pharmgkbrs146221660
gwascentralrs146221660
openSNPrs146221660
23andMers146221660
SNPshotrs146221660
SNPdbers146221660
MSV3drs146221660
GWAS Ctlgrs146221660
Max Magnitude0
ClinVar
Risk rs146221660(A;A) rs146221660(T;T)
Alt rs146221660(A;A) rs146221660(T;T)
Reference Rs146221660(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.62324601G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000201216.3, RCV000201575.1,