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rs398123050

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123050(A;A)
Make rs398123050(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63689870
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs398123050
ebirs398123050
HLIrs398123050
Exacrs398123050
Varsomers398123050
Maprs398123050
PheGenIrs398123050
hapmaprs398123050
1000 genomesrs398123050
hgdprs398123050
ensemblrs398123050
gopubmedrs398123050
geneviewrs398123050
scholarrs398123050
googlers398123050
pharmgkbrs398123050
gwascentralrs398123050
openSNPrs398123050
23andMers398123050
23andMe allrs398123050
SNP Nexus

SNPshotrs398123050
SNPdbers398123050
MSV3drs398123050
GWAS Ctlgrs398123050
Max Magnitude0
ClinVar
Risk rs398123050(A;A)
Alt rs398123050(A;A)
Reference rs398123050(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.62321223G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000055637.5,