rs199422295

Orientation

minus

Stabilized

minus

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

Make rs199422295(A;A)

Make rs199422295(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1279376

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs199422295
dbSNP (classic)	rs199422295
ClinGen	rs199422295
ebi	rs199422295
HLI	rs199422295
Exac	rs199422295
Gnomad	rs199422295
Varsome	rs199422295
LitVar	rs199422295
Map	rs199422295
PheGenI	rs199422295
Biobank	rs199422295
1000 genomes	rs199422295
hgdp	rs199422295
ensembl	rs199422295
geneview	rs199422295
scholar	rs199422295
google	rs199422295
pharmgkb	rs199422295
gwascentral	rs199422295
openSNP	rs199422295
23andMe	rs199422295
SNPshot	rs199422295
SNPdbe	rs199422295
MSV3d	rs199422295
GWAS Ctlg	rs199422295

Max Magnitude

0

ClinVar
Risk	rs199422295(A;A)
Alt	rs199422295(A;A)
Reference	Rs199422295(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.1279491C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032372.1,