rs398123016

Orientation

plus

Stabilized

plus

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

Make rs398123016(G;T)

Make rs398123016(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63690161

Gene	RTEL1, RTEL1-TNFRSF6B

is a	snp
is	mentioned by
dbSNP	rs398123016
dbSNP (classic)	rs398123016
ClinGen	rs398123016
ebi	rs398123016
HLI	rs398123016
Exac	rs398123016
Gnomad	rs398123016
Varsome	rs398123016
LitVar	rs398123016
Map	rs398123016
PheGenI	rs398123016
Biobank	rs398123016
1000 genomes	rs398123016
hgdp	rs398123016
ensembl	rs398123016
geneview	rs398123016
scholar	rs398123016
google	rs398123016
pharmgkb	rs398123016
gwascentral	rs398123016
openSNP	rs398123016
23andMe	rs398123016
SNPshot	rs398123016
SNPdbe	rs398123016
MSV3d	rs398123016
GWAS Ctlg	rs398123016

Max Magnitude

0

ClinVar
Risk	rs398123016(T;T)
Alt	rs398123016(T;T)
Reference	Rs398123016(G;G)
Significance	Pathogenic
Disease	Dyskeratosis congenita
Variation	info
Gene	RTEL1-TNFRSF6B RTEL1
CLNDBN	Dyskeratosis congenita, autosomal recessive, 5
Reversed	0
HGVS	NC_000020.10:g.62321514G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034859.5,