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rs587777037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777037(C;C)
Make rs587777037(C;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position63695558
GeneRTEL1, RTEL1-TNFRSF6B, TNFRSF6B
is asnp
is mentioned by
dbSNPrs587777037
ebirs587777037
HLIrs587777037
Exacrs587777037
Varsomers587777037
Maprs587777037
PheGenIrs587777037
hapmaprs587777037
1000 genomesrs587777037
hgdprs587777037
ensemblrs587777037
gopubmedrs587777037
geneviewrs587777037
scholarrs587777037
googlers587777037
pharmgkbrs587777037
gwascentralrs587777037
openSNPrs587777037
23andMers587777037
23andMe allrs587777037
SNP Nexus

SNPshotrs587777037
SNPdbers587777037
MSV3drs587777037
GWAS Ctlgrs587777037
Max Magnitude0
ClinVar
Risk rs587777037(C;C)
Alt rs587777037(C;C)
Reference rs587777037(T;T)
Significance Pathogenic
Disease Dyskeratosis congenita
Variation info
Gene RTEL1-TNFRSF6B RTEL1 TNFRSF6B
CLNDBN Dyskeratosis congenita, autosomal recessive, 5
Reversed 0
HGVS NC_000020.10:g.62326911T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000055634.4,