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rs373740199

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs373740199(C;T)
Make rs373740199(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position63693247
GeneRTEL1, RTEL1-TNFRSF6B
is asnp
is mentioned by
dbSNPrs373740199
ebirs373740199
HLIrs373740199
Exacrs373740199
Varsomers373740199
Maprs373740199
PheGenIrs373740199
hapmaprs373740199
1000 genomesrs373740199
hgdprs373740199
ensemblrs373740199
gopubmedrs373740199
geneviewrs373740199
scholarrs373740199
googlers373740199
pharmgkbrs373740199
gwascentralrs373740199
openSNPrs373740199
23andMers373740199
23andMe allrs373740199
SNP Nexus

SNPshotrs373740199
SNPdbers373740199
MSV3drs373740199
GWAS Ctlgrs373740199
Max Magnitude0
ClinVar
Risk rs373740199(A,T;A,T)
Alt rs373740199(A,T;A,T)
Reference rs373740199(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita Dyskeratosis congenita
Variation info
Gene RTEL1-TNFRSF6B RTEL1
CLNDBN Dyskeratosis congenita, autosomal dominant, 4 Dyskeratosis congenita, autosomal recessive, 5
Reversed 0
HGVS NC_000020.10:g.62324600C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000055639.4, RCV000195729.1,