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

rs398123019

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123019(A;A)
Make rs398123019(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63672607
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs398123019
ebirs398123019
HLIrs398123019
Exacrs398123019
Varsomers398123019
Maprs398123019
PheGenIrs398123019
hapmaprs398123019
1000 genomesrs398123019
hgdprs398123019
ensemblrs398123019
gopubmedrs398123019
geneviewrs398123019
scholarrs398123019
googlers398123019
pharmgkbrs398123019
gwascentralrs398123019
openSNPrs398123019
23andMers398123019
23andMe allrs398123019
SNP Nexus

SNPshotrs398123019
SNPdbers398123019
MSV3drs398123019
GWAS Ctlgrs398123019
Max Magnitude0
ClinVar
Risk rs398123019(A;A)
Alt rs398123019(A;A)
Reference rs398123019(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.62303960G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034864.6,