rs398123050

Orientation

plus

Stabilized

plus

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

Make rs398123050(A;A)

Make rs398123050(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63689870

Gene	RTEL1, RTEL1-TNFRSF6B

is a	snp
is	mentioned by
dbSNP	rs398123050
dbSNP (classic)	rs398123050
ClinGen	rs398123050
ebi	rs398123050
HLI	rs398123050
Exac	rs398123050
Gnomad	rs398123050
Varsome	rs398123050
LitVar	rs398123050
Map	rs398123050
PheGenI	rs398123050
Biobank	rs398123050
1000 genomes	rs398123050
hgdp	rs398123050
ensembl	rs398123050
geneview	rs398123050
scholar	rs398123050
google	rs398123050
pharmgkb	rs398123050
gwascentral	rs398123050
openSNP	rs398123050
23andMe	rs398123050
SNPshot	rs398123050
SNPdbe	rs398123050
MSV3d	rs398123050
GWAS Ctlg	rs398123050

Max Magnitude

0

ClinVar
Risk	rs398123050(A;A)
Alt	rs398123050(A;A)
Reference	Rs398123050(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.62321223G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000055637.6,