rs199422299

Orientation

minus

Stabilized

minus

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

Make rs199422299(C;G)

Make rs199422299(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1278765

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs199422299
dbSNP (classic)	rs199422299
ClinGen	rs199422299
ebi	rs199422299
HLI	rs199422299
Exac	rs199422299
Gnomad	rs199422299
Varsome	rs199422299
LitVar	rs199422299
Map	rs199422299
PheGenI	rs199422299
Biobank	rs199422299
1000 genomes	rs199422299
hgdp	rs199422299
ensembl	rs199422299
geneview	rs199422299
scholar	rs199422299
google	rs199422299
pharmgkb	rs199422299
gwascentral	rs199422299
openSNP	rs199422299
23andMe	rs199422299
SNPshot	rs199422299
SNPdbe	rs199422299
MSV3d	rs199422299
GWAS Ctlg	rs199422299

Max Magnitude

0

ClinVar
Risk	rs199422299(G;G)
Alt	rs199422299(G;G)
Reference	Rs199422299(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TERT
CLNDBN	Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000005.9:g.1278880G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032377.1,