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rs863224915

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863224915(C;C)
Make rs863224915(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63685798
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs863224915
ebirs863224915
HLIrs863224915
Exacrs863224915
Varsomers863224915
Maprs863224915
PheGenIrs863224915
hapmaprs863224915
1000 genomesrs863224915
hgdprs863224915
ensemblrs863224915
gopubmedrs863224915
geneviewrs863224915
scholarrs863224915
googlers863224915
pharmgkbrs863224915
gwascentralrs863224915
openSNPrs863224915
23andMers863224915
23andMe allrs863224915
SNP Nexus

SNPshotrs863224915
SNPdbers863224915
MSV3drs863224915
GWAS Ctlgrs863224915
Max Magnitude0
ClinVar
Risk rs863224915(C;C)
Alt rs863224915(C;C)
Reference rs863224915(T;T)
Significance Probable-Pathogenic
Disease Dyskeratosis congenita
Variation info
Gene RTEL1-TNFRSF6B RTEL1
CLNDBN Dyskeratosis congenita, autosomal recessive, 5
Reversed 0
HGVS NC_000020.10:g.62317151T>C
CLNSRC
CLNACC RCV000195729.1,