rs201540674

plus

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

Make rs201540674(A;A)

Reference

GRCh38 38.1/142

Chromosome

20

Position

63695619

Gene	RTEL1, RTEL1-TNFRSF6B, TNFRSF6B

is a	snp
is	mentioned by
dbSNP	rs201540674
dbSNP (classic)	rs201540674
ClinGen	rs201540674
ebi	rs201540674
HLI	rs201540674
Exac	rs201540674
Gnomad	rs201540674
Varsome	rs201540674
LitVar	rs201540674
Map	rs201540674
PheGenI	rs201540674
Biobank	rs201540674
1000 genomes	rs201540674
hgdp	rs201540674
ensembl	rs201540674
geneview	rs201540674
scholar	rs201540674
google	rs201540674
pharmgkb	rs201540674
gwascentral	rs201540674
openSNP	rs201540674
23andMe	rs201540674
SNPshot	rs201540674
SNPdbe	rs201540674
MSV3d	rs201540674
GWAS Ctlg	rs201540674

Max Magnitude

3

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,