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rs398123049

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123049(A;A)
Make rs398123049(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63690178
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs398123049
ebirs398123049
HLIrs398123049
Exacrs398123049
Varsomers398123049
Maprs398123049
PheGenIrs398123049
hapmaprs398123049
1000 genomesrs398123049
hgdprs398123049
ensemblrs398123049
gopubmedrs398123049
geneviewrs398123049
scholarrs398123049
googlers398123049
pharmgkbrs398123049
gwascentralrs398123049
openSNPrs398123049
23andMers398123049
23andMe allrs398123049
SNP Nexus

SNPshotrs398123049
SNPdbers398123049
MSV3drs398123049
GWAS Ctlgrs398123049
Max Magnitude0
ClinVar
Risk rs398123049(A;A)
Alt rs398123049(A;A)
Reference rs398123049(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.62321531G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000055636.4,