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rs398123048

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123048(C;G)
Make rs398123048(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63689821
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs398123048
ebirs398123048
HLIrs398123048
Exacrs398123048
Varsomers398123048
Maprs398123048
PheGenIrs398123048
hapmaprs398123048
1000 genomesrs398123048
hgdprs398123048
ensemblrs398123048
gopubmedrs398123048
geneviewrs398123048
scholarrs398123048
googlers398123048
pharmgkbrs398123048
gwascentralrs398123048
openSNPrs398123048
23andMers398123048
23andMe allrs398123048
SNP Nexus

SNPshotrs398123048
SNPdbers398123048
MSV3drs398123048
GWAS Ctlgrs398123048
Max Magnitude0
ClinVar
Risk rs398123048(G;G)
Alt rs398123048(G;G)
Reference rs398123048(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.62321174C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000055635.4,