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rs398123018

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123018(C;T)
Make rs398123018(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63693160
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs398123018
ebirs398123018
HLIrs398123018
Exacrs398123018
Varsomers398123018
Maprs398123018
PheGenIrs398123018
hapmaprs398123018
1000 genomesrs398123018
hgdprs398123018
ensemblrs398123018
gopubmedrs398123018
geneviewrs398123018
scholarrs398123018
googlers398123018
pharmgkbrs398123018
gwascentralrs398123018
openSNPrs398123018
23andMers398123018
23andMe allrs398123018
SNP Nexus

SNPshotrs398123018
SNPdbers398123018
MSV3drs398123018
GWAS Ctlgrs398123018
Max Magnitude0
ClinVar
Risk rs398123018(A,G,T;A,G,T)
Alt rs398123018(A,G,T;A,G,T)
Reference rs398123018(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita
Variation info
Gene RTEL1-TNFRSF6B RTEL1
CLNDBN Dyskeratosis congenita, autosomal recessive, 5
Reversed 0
HGVS NC_000020.10:g.62324513C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034863.6,