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rs398123051

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123051(G;T)
Make rs398123051(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63688578
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs398123051
ebirs398123051
HLIrs398123051
Exacrs398123051
Varsomers398123051
Maprs398123051
PheGenIrs398123051
hapmaprs398123051
1000 genomesrs398123051
hgdprs398123051
ensemblrs398123051
gopubmedrs398123051
geneviewrs398123051
scholarrs398123051
googlers398123051
pharmgkbrs398123051
gwascentralrs398123051
openSNPrs398123051
23andMers398123051
23andMe allrs398123051
SNP Nexus

SNPshotrs398123051
SNPdbers398123051
MSV3drs398123051
GWAS Ctlgrs398123051
Max Magnitude0
ClinVar
Risk rs398123051(T;T)
Alt rs398123051(T;T)
Reference rs398123051(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.62319931G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000055638.4,