rs398123052

Orientation

plus

Stabilized

plus

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

Make rs398123052(A;A)

Make rs398123052(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63689115

Gene	RTEL1, RTEL1-TNFRSF6B

is a	snp
is	mentioned by
dbSNP	rs398123052
dbSNP (classic)	rs398123052
ClinGen	rs398123052
ebi	rs398123052
HLI	rs398123052
Exac	rs398123052
Gnomad	rs398123052
Varsome	rs398123052
LitVar	rs398123052
Map	rs398123052
PheGenI	rs398123052
Biobank	rs398123052
1000 genomes	rs398123052
hgdp	rs398123052
ensembl	rs398123052
geneview	rs398123052
scholar	rs398123052
google	rs398123052
pharmgkb	rs398123052
gwascentral	rs398123052
openSNP	rs398123052
23andMe	rs398123052
SNPshot	rs398123052
SNPdbe	rs398123052
MSV3d	rs398123052
GWAS Ctlg	rs398123052

Max Magnitude

0

ClinVar
Risk	rs398123052(A;A) rs398123052(T;T)
Alt	rs398123052(A;A) rs398123052(T;T)
Reference	Rs398123052(G;G)
Significance	Pathogenic
Disease	Dyskeratosis congenita
Variation	info
Gene	RTEL1-TNFRSF6B RTEL1
CLNDBN	Dyskeratosis congenita, autosomal dominant, 4
Reversed	0
HGVS	NC_000020.10:g.62320468G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000055640.6,