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rs201540674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of a dyskeratosis congenita (recessive) mutation
(G;G) 0 common in clinvar


Make rs201540674(A;A)
ReferenceGRCh38 38.1/142
Chromosome20
Position63695619
GeneRTEL1, RTEL1-TNFRSF6B, TNFRSF6B
is asnp
is mentioned by
dbSNPrs201540674
dbSNP (classic)rs201540674
ClinGenrs201540674
ebirs201540674
HLIrs201540674
Exacrs201540674
Gnomadrs201540674
Varsomers201540674
LitVarrs201540674
Maprs201540674
PheGenIrs201540674
Biobankrs201540674
1000 genomesrs201540674
hgdprs201540674
ensemblrs201540674
geneviewrs201540674
scholarrs201540674
googlers201540674
pharmgkbrs201540674
gwascentralrs201540674
openSNPrs201540674
23andMers201540674
23andMe allrs201540674
SNPshotrs201540674
SNPdbers201540674
MSV3drs201540674
GWAS Ctlgrs201540674
Max Magnitude3

aka c.2402G>A (p.Arg801His or R80H)

Note that this variant is also called c.3791G>A (p.Arg1264His or R1264H) when numbering using a different reference sequence is used; for an example, see the 2014 paper that concluded that this variant is likely to be a founder mutation in Ashkenazi Jews and should be included in carrier screens.[PMID 25047097]

news article from January 2019 discusses the search for a cure

ClinVar
Risk rs201540674(A;A)
Alt rs201540674(A;A)
Reference Rs201540674(G;G)
Significance Other
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
CLNACC RCV000034860.8, RCV000201217.3, RCV000201662.1,