Have questions? Visit https://www.reddit.com/r/SNPedia

rs398123016

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123016(G;T)
Make rs398123016(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63690161
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs398123016
ebirs398123016
HLIrs398123016
Exacrs398123016
Varsomers398123016
Maprs398123016
PheGenIrs398123016
hapmaprs398123016
1000 genomesrs398123016
hgdprs398123016
ensemblrs398123016
gopubmedrs398123016
geneviewrs398123016
scholarrs398123016
googlers398123016
pharmgkbrs398123016
gwascentralrs398123016
openSNPrs398123016
23andMers398123016
23andMe allrs398123016
SNP Nexus

SNPshotrs398123016
SNPdbers398123016
MSV3drs398123016
GWAS Ctlgrs398123016
Max Magnitude0
ClinVar
Risk rs398123016(T;T)
Alt rs398123016(T;T)
Reference rs398123016(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita
Variation info
Gene RTEL1-TNFRSF6B RTEL1
CLNDBN Dyskeratosis congenita, autosomal recessive, 5
Reversed 0
HGVS NC_000020.10:g.62321514G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034859.4,