rs199422296

Orientation

minus

Stabilized

minus

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

Make rs199422296(G;T)

Make rs199422296(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1279392

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs199422296
dbSNP (classic)	rs199422296
ClinGen	rs199422296
ebi	rs199422296
HLI	rs199422296
Exac	rs199422296
Gnomad	rs199422296
Varsome	rs199422296
LitVar	rs199422296
Map	rs199422296
PheGenI	rs199422296
Biobank	rs199422296
1000 genomes	rs199422296
hgdp	rs199422296
ensembl	rs199422296
geneview	rs199422296
scholar	rs199422296
google	rs199422296
pharmgkb	rs199422296
gwascentral	rs199422296
openSNP	rs199422296
23andMe	rs199422296
SNPshot	rs199422296
SNPdbe	rs199422296
MSV3d	rs199422296
GWAS Ctlg	rs199422296

Max Magnitude

0

ClinVar
Risk	rs199422296(T;T)
Alt	rs199422296(T;T)
Reference	Rs199422296(G;G)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TERT
CLNDBN	Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000005.9:g.1279507C>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032371.1,