rs398123017

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs398123017(C;T)

Make rs398123017(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63693211

Gene	RTEL1, RTEL1-TNFRSF6B

is a	snp
is	mentioned by
dbSNP	rs398123017
dbSNP (classic)	rs398123017
ClinGen	rs398123017
ebi	rs398123017
HLI	rs398123017
Exac	rs398123017
Gnomad	rs398123017
Varsome	rs398123017
LitVar	rs398123017
Map	rs398123017
PheGenI	rs398123017
Biobank	rs398123017
1000 genomes	rs398123017
hgdp	rs398123017
ensembl	rs398123017
geneview	rs398123017
scholar	rs398123017
google	rs398123017
pharmgkb	rs398123017
gwascentral	rs398123017
openSNP	rs398123017
23andMe	rs398123017
SNPshot	rs398123017
SNPdbe	rs398123017
MSV3d	rs398123017
GWAS Ctlg	rs398123017

Max Magnitude

0

ClinVar
Risk	rs398123017(T;T)
Alt	rs398123017(T;T)
Reference	Rs398123017(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita Idiopathic fibrosing alveolitis
Variation	info
Gene	RTEL1-TNFRSF6B RTEL1
CLNDBN	Dyskeratosis congenita, autosomal recessive, 5 Idiopathic fibrosing alveolitis, chronic form
Reversed	0
HGVS	NC_000020.10:g.62324564C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034862.8, RCV000201744.1,