rs398123051

Orientation

plus

Stabilized

plus

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

Make rs398123051(G;T)

Make rs398123051(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63688578

Gene	RTEL1, RTEL1-TNFRSF6B

is a	snp
is	mentioned by
dbSNP	rs398123051
dbSNP (classic)	rs398123051
ClinGen	rs398123051
ebi	rs398123051
HLI	rs398123051
Exac	rs398123051
Gnomad	rs398123051
Varsome	rs398123051
LitVar	rs398123051
Map	rs398123051
PheGenI	rs398123051
Biobank	rs398123051
1000 genomes	rs398123051
hgdp	rs398123051
ensembl	rs398123051
geneview	rs398123051
scholar	rs398123051
google	rs398123051
pharmgkb	rs398123051
gwascentral	rs398123051
openSNP	rs398123051
23andMe	rs398123051
SNPshot	rs398123051
SNPdbe	rs398123051
MSV3d	rs398123051
GWAS Ctlg	rs398123051

Max Magnitude

0

ClinVar
Risk	rs398123051(A;A) rs398123051(T;T)
Alt	rs398123051(A;A) rs398123051(T;T)
Reference	Rs398123051(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.62319931G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000055638.5,