rs398123048

Orientation

plus

Stabilized

plus

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

Make rs398123048(C;G)

Make rs398123048(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63689821

Gene	RTEL1, RTEL1-TNFRSF6B

is a	snp
is	mentioned by
dbSNP	rs398123048
dbSNP (classic)	rs398123048
ClinGen	rs398123048
ebi	rs398123048
HLI	rs398123048
Exac	rs398123048
Gnomad	rs398123048
Varsome	rs398123048
LitVar	rs398123048
Map	rs398123048
PheGenI	rs398123048
Biobank	rs398123048
1000 genomes	rs398123048
hgdp	rs398123048
ensembl	rs398123048
geneview	rs398123048
scholar	rs398123048
google	rs398123048
pharmgkb	rs398123048
gwascentral	rs398123048
openSNP	rs398123048
23andMe	rs398123048
SNPshot	rs398123048
SNPdbe	rs398123048
MSV3d	rs398123048
GWAS Ctlg	rs398123048

Max Magnitude

0

ClinVar
Risk	rs398123048(G;G)
Alt	rs398123048(G;G)
Reference	Rs398123048(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.62321174C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000055635.5,