rs199422305

Orientation

minus

Stabilized

minus

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

Make rs199422305(C;T)

Make rs199422305(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1260509

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs199422305
dbSNP (classic)	rs199422305
ClinGen	rs199422305
ebi	rs199422305
HLI	rs199422305
Exac	rs199422305
Gnomad	rs199422305
Varsome	rs199422305
LitVar	rs199422305
Map	rs199422305
PheGenI	rs199422305
Biobank	rs199422305
1000 genomes	rs199422305
hgdp	rs199422305
ensembl	rs199422305
geneview	rs199422305
scholar	rs199422305
google	rs199422305
pharmgkb	rs199422305
gwascentral	rs199422305
openSNP	rs199422305
23andMe	rs199422305
SNPshot	rs199422305
SNPdbe	rs199422305
MSV3d	rs199422305
GWAS Ctlg	rs199422305

Max Magnitude

0

ClinVar
Risk	rs199422305(T;T)
Alt	rs199422305(T;T)
Reference	Rs199422305(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant Aplastic anemia
Variation	info
Gene	TERT
CLNDBN	Dyskeratosis congenita autosomal dominant Aplastic anemia
Reversed	1
HGVS	NC_000005.9:g.1260624G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032390.1, RCV000144245.1,