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rs398123052

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123052(A;A)
Make rs398123052(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63689115
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs398123052
ebirs398123052
HLIrs398123052
Exacrs398123052
Varsomers398123052
Maprs398123052
PheGenIrs398123052
hapmaprs398123052
1000 genomesrs398123052
hgdprs398123052
ensemblrs398123052
gopubmedrs398123052
geneviewrs398123052
scholarrs398123052
googlers398123052
pharmgkbrs398123052
gwascentralrs398123052
openSNPrs398123052
23andMers398123052
23andMe allrs398123052
SNP Nexus

SNPshotrs398123052
SNPdbers398123052
MSV3drs398123052
GWAS Ctlgrs398123052
Max Magnitude0
ClinVar
Risk rs398123052(A,T;A,T)
Alt rs398123052(A,T;A,T)
Reference rs398123052(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita
Variation info
Gene RTEL1-TNFRSF6B RTEL1
CLNDBN Dyskeratosis congenita, autosomal dominant, 4
Reversed 0
HGVS NC_000020.10:g.62320468G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000055640.4,