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rs370343781

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs370343781(G;T)
Make rs370343781(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63687765
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs370343781
ebirs370343781
HLIrs370343781
Exacrs370343781
Varsomers370343781
Maprs370343781
PheGenIrs370343781
hapmaprs370343781
1000 genomesrs370343781
hgdprs370343781
ensemblrs370343781
gopubmedrs370343781
geneviewrs370343781
scholarrs370343781
googlers370343781
pharmgkbrs370343781
gwascentralrs370343781
openSNPrs370343781
23andMers370343781
23andMe allrs370343781
SNP Nexus

SNPshotrs370343781
SNPdbers370343781
MSV3drs370343781
GWAS Ctlgrs370343781
Max Magnitude0
ClinVar
Risk rs370343781(T;T)
Alt rs370343781(T;T)
Reference rs370343781(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.62319118G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034861.7,