rs398123018

Orientation

plus

Stabilized

plus

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

Make rs398123018(C;T)

Make rs398123018(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63693160

Gene	RTEL1, RTEL1-TNFRSF6B

is a	snp
is	mentioned by
dbSNP	rs398123018
dbSNP (classic)	rs398123018
ClinGen	rs398123018
ebi	rs398123018
HLI	rs398123018
Exac	rs398123018
Gnomad	rs398123018
Varsome	rs398123018
LitVar	rs398123018
Map	rs398123018
PheGenI	rs398123018
Biobank	rs398123018
1000 genomes	rs398123018
hgdp	rs398123018
ensembl	rs398123018
geneview	rs398123018
scholar	rs398123018
google	rs398123018
pharmgkb	rs398123018
gwascentral	rs398123018
openSNP	rs398123018
23andMe	rs398123018
SNPshot	rs398123018
SNPdbe	rs398123018
MSV3d	rs398123018
GWAS Ctlg	rs398123018

Max Magnitude

0

ClinVar
Risk	rs398123018(A;A) rs398123018(G;G) rs398123018(T;T)
Alt	rs398123018(A;A) rs398123018(G;G) rs398123018(T;T)
Reference	Rs398123018(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita
Variation	info
Gene	RTEL1-TNFRSF6B RTEL1
CLNDBN	Dyskeratosis congenita, autosomal recessive, 5
Reversed	0
HGVS	NC_000020.10:g.62324513C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034863.7,