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rs201540674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201540674(A;A)
Make rs201540674(A;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position63695619
GeneRTEL1, RTEL1-TNFRSF6B, TNFRSF6B
is asnp
is mentioned by
dbSNPrs201540674
ebirs201540674
HLIrs201540674
Exacrs201540674
Varsomers201540674
Maprs201540674
PheGenIrs201540674
hapmaprs201540674
1000 genomesrs201540674
hgdprs201540674
ensemblrs201540674
gopubmedrs201540674
geneviewrs201540674
scholarrs201540674
googlers201540674
pharmgkbrs201540674
gwascentralrs201540674
openSNPrs201540674
23andMers201540674
23andMe allrs201540674
SNP Nexus

SNPshotrs201540674
SNPdbers201540674
MSV3drs201540674
GWAS Ctlgrs201540674
Max Magnitude0
ClinVar
Risk rs201540674(A;A)
Alt rs201540674(A;A)
Reference rs201540674(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita Pulmonary fibrosis and/or bone marrow failure Idiopathic fibrosing alveolitis
Variation info
Gene RTEL1-TNFRSF6B RTEL1 TNFRSF6B
CLNDBN Dyskeratosis congenita, autosomal recessive, 5 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 Idiopathic fibrosing alveolitis, chronic form
Reversed 0
HGVS NC_000020.10:g.62326972G>A
CLNSRC OMIM Allelic Variant RefSeqStandard
CLNACC RCV000034860.7, RCV000201217.2, RCV000201662.1,