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rs398123017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123017(C;T)
Make rs398123017(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63693211
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs398123017
ebirs398123017
HLIrs398123017
Exacrs398123017
Varsomers398123017
Maprs398123017
PheGenIrs398123017
hapmaprs398123017
1000 genomesrs398123017
hgdprs398123017
ensemblrs398123017
gopubmedrs398123017
geneviewrs398123017
scholarrs398123017
googlers398123017
pharmgkbrs398123017
gwascentralrs398123017
openSNPrs398123017
23andMers398123017
23andMe allrs398123017
SNP Nexus

SNPshotrs398123017
SNPdbers398123017
MSV3drs398123017
GWAS Ctlgrs398123017
Max Magnitude0
ClinVar
Risk rs398123017(T;T)
Alt rs398123017(T;T)
Reference rs398123017(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita Idiopathic fibrosing alveolitis
Variation info
Gene RTEL1-TNFRSF6B RTEL1
CLNDBN Dyskeratosis congenita, autosomal recessive, 5 Idiopathic fibrosing alveolitis, chronic form
Reversed 0
HGVS NC_000020.10:g.62324564C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034862.7, RCV000201744.1,